UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
2735399
ClinVar RCV Id:
RCV003557504
dbSNP Id:
rs2132634868
gnomAD v4:
10-53831358-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53831358A>G , CM000672.2:g.53831358A>G | GRCh38 |
| NC_000010.10:g.55591118A>G , CM000672.1:g.55591118A>G | GRCh37 |
| NC_000010.9:g.55261124A>G | NCBI36 |
| NG_009191.2:g.974934T>C | |
| NG_009191.3:g.1802825T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000613657.6:c.4195T>C | ENSP00000482794.1:p.Cys1399Arg | |
| ENST00000320301.11:c.4159T>C MANE Plus Clinical | ENSP00000322604.6:p.Cys1387Arg | |
| ENST00000395445.6:c.4180T>C | ENSP00000378832.2:p.Cys1394Arg | |
| ENST00000613657.5:c.4195T>C | ENSP00000482794.1:p.Cys1399Arg | |
| ENST00000642496.1:c.3018T>C | ||
| ENST00000644397.2:c.4159T>C MANE Select | ENSP00000495195.1:p.Cys1387Arg | |
| ENST00000320301.10:c.4159T>C | ENSP00000322604.6:p.Cys1387Arg | |
| ENST00000361849.7:c.4159T>C | ENSP00000354950.3:p.Cys1387Arg | |
| ENST00000373956.7:c.*2114T>C | ENSP00000363067.4:n.*2114T>C | |
| ENST00000373957.7:c.4174T>C | ENSP00000363068.4:p.Cys1392Arg | |
| ENST00000373965.6:c.4159T>C | ENSP00000363076.3:p.Cys1387Arg | |
| ENST00000395430.5:c.4159T>C | ENSP00000378818.1:p.Cys1387Arg | |
| ENST00000395432.6:c.4048T>C | ENSP00000378820.2:p.Cys1350Arg | |
| ENST00000395433.5:c.4093T>C | ENSP00000378821.1:p.Cys1365Arg | |
| ENST00000395438.5:c.4159T>C | ENSP00000378826.2:p.Cys1387Arg | |
| ENST00000395440.5:c.1306-21812T>C | ENSP00000378827.1:n.1306-21812T>C | |
| ENST00000395442.5:c.1099-21812T>C | ENSP00000378829.1:n.1099-21812T>C | |
| ENST00000395445.5:c.4180T>C | ENSP00000378832.2:p.Cys1394Arg | |
| ENST00000395446.5:c.2092-21812T>C | ENSP00000378833.1:n.2092-21812T>C | |
| ENST00000409834.5:c.2992T>C | ENSP00000386693.1:p.Cys998Arg | |
| ENST00000414367.5:c.*239T>C | ENSP00000412531.1:n.*239T>C | |
| ENST00000414778.5:c.4159T>C | ENSP00000410304.2:p.Cys1387Arg | |
| ENST00000437009.5:c.3946T>C | ENSP00000412628.2:p.Cys1316Arg | |
| ENST00000448885.5:c.*2114T>C | ENSP00000412320.1:n.*2114T>C | |
| ENST00000463095.2:n.1178T>C | ||
| ENST00000495484.5:c.418T>C | ENSP00000480780.1:p.Cys140Arg | |
| ENST00000612394.4:c.4195T>C | ENSP00000482921.1:p.Cys1399Arg | |
| ENST00000613657.4:c.4195T>C | ENSP00000482794.1:p.Cys1399Arg | |
| ENST00000614895.4:c.4174T>C | ENSP00000478512.1:p.Cys1392Arg | |
| ENST00000616114.4:c.4159T>C | ENSP00000483745.1:p.Cys1387Arg | |
| ENST00000617051.4:c.4174T>C | ENSP00000484703.1:p.Cys1392Arg | |
| ENST00000617271.4:c.4159T>C | ENSP00000478076.1:p.Cys1387Arg | |
| ENST00000618301.4:c.385T>C | ENSP00000482780.1:p.Cys129Arg | |
| ENST00000621708.4:c.4174T>C | ENSP00000484454.1:p.Cys1392Arg | |
| ENST00000622048.4:c.3946T>C | ENSP00000482329.1:p.Cys1316Arg | |
| NM_001142763.1:c.4174T>C | NP_001136235.1:p.Cys1392Arg | |
| NM_001142764.1:c.4159T>C | NP_001136236.1:p.Cys1387Arg | |
| NM_001142765.1:c.3946T>C | NP_001136237.1:p.Cys1316Arg | |
| NM_001142766.1:c.4159T>C | NP_001136238.1:p.Cys1387Arg | |
| NM_001142767.1:c.4048T>C | NP_001136239.1:p.Cys1350Arg | |
| NM_001142768.1:c.4093T>C | NP_001136240.1:p.Cys1365Arg | |
| NM_001142769.1:c.4195T>C | NP_001136241.1:p.Cys1399Arg | |
| NM_001142770.1:c.4159T>C | NP_001136242.1:p.Cys1387Arg | |
| NM_001142771.1:c.4174T>C | NP_001136243.1:p.Cys1392Arg | |
| NM_001142772.1:c.4159T>C | NP_001136244.1:p.Cys1387Arg | |
| NM_001142773.1:c.4093T>C | NP_001136245.1:p.Cys1365Arg | |
| NM_033056.3:c.4159T>C | NP_149045.3:p.Cys1387Arg | |
| NM_001142769.2:c.4195T>C | NP_001136241.1:p.Cys1399Arg | |
| NM_001142770.2:c.4159T>C | NP_001136242.1:p.Cys1387Arg | |
| NM_001354404.1:c.4093T>C | NP_001341333.1:p.Cys1365Arg | |
| NM_001354411.1:c.4180T>C | NP_001341340.1:p.Cys1394Arg | |
| NM_001354420.1:c.4159T>C | NP_001341349.1:p.Cys1387Arg | |
| NM_001354429.1:c.4159T>C | NP_001341358.1:p.Cys1387Arg | |
| XM_017016573.2:c.4174T>C | XP_016872062.1:p.Cys1392Arg | |
| XR_001747192.2:n.5172T>C | ||
| XR_001747193.2:n.5172T>C | ||
| NM_001142763.2:c.4174T>C | NP_001136235.1:p.Cys1392Arg | |
| NM_001142764.2:c.4159T>C | NP_001136236.1:p.Cys1387Arg | |
| NM_001142765.2:c.3946T>C | NP_001136237.1:p.Cys1316Arg | |
| NM_001142766.2:c.4159T>C | NP_001136238.1:p.Cys1387Arg | |
| NM_001142768.2:c.4093T>C | NP_001136240.1:p.Cys1365Arg | |
| NM_001142769.3:c.4195T>C | NP_001136241.1:p.Cys1399Arg | |
| NM_001142770.3:c.4159T>C | NP_001136242.1:p.Cys1387Arg | |
| NM_001142771.2:c.4174T>C | NP_001136243.1:p.Cys1392Arg | |
| NM_001142772.2:c.4159T>C | NP_001136244.1:p.Cys1387Arg | |
| NM_001142773.2:c.4093T>C | NP_001136245.1:p.Cys1365Arg | |
| NM_001354411.2:c.4180T>C | NP_001341340.1:p.Cys1394Arg | |
| NM_001354420.2:c.4159T>C | NP_001341349.1:p.Cys1387Arg | |
| NM_001354429.2:c.4159T>C | NP_001341358.1:p.Cys1387Arg | |
| NM_033056.4:c.4159T>C MANE Plus Clinical | NP_149045.3:p.Cys1387Arg | |
| NM_001142767.2:c.4048T>C | NP_001136239.1:p.Cys1350Arg | |
| NM_001354404.2:c.4093T>C | NP_001341333.1:p.Cys1365Arg | |
| NM_001384140.1:c.4159T>C MANE Select | NP_001371069.1:p.Cys1387Arg |