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:
16273
ClinVar RCV Id:
RCV000017662
dbSNP Id:
rs121913488
COSMIC:
COSM785
CIViC:
CA280208
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28018505C>G , CM000675.2:g.28018505C>G | GRCh38 |
| NC_000013.10:g.28592642C>G , CM000675.1:g.28592642C>G | GRCh37 |
| NC_000013.9:g.27490642C>G | NCBI36 |
| NG_007066.1:g.87064G>C , LRG_457:g.87064G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000241453.12:c.2503G>C MANE Select | ENSP00000241453.7:p.Asp835His | |
| ENST00000241453.11:c.2503G>C | ENSP00000241453.7:p.Asp835His | |
| ENST00000380987.2:c.*415G>C | ENSP00000370374.2:n.*415G>C | |
| NM_004119.2:c.2503G>C , LRG_457t1:c.2503G>C | NP_004110.2:p.Asp835His | |
| NR_130706.1:n.2717G>C | ||
| XM_011535015.1:c.2446G>C | XP_011533317.1:p.Asp816His | |
| XM_011535016.1:c.1978G>C | XP_011533318.1:p.Asp660His | |
| XM_011535017.1:c.1978G>C | XP_011533319.1:p.Asp660His | |
| XM_011535018.1:c.1978G>C | XP_011533320.1:p.Asp660His | |
| XM_011535015.2:c.2446G>C | XP_011533317.1:p.Asp816His | |
| XM_011535017.2:c.1978G>C | XP_011533319.1:p.Asp660His | |
| XM_011535018.2:c.1978G>C | XP_011533320.1:p.Asp660His | |
| XM_017020486.1:c.2287G>C | XP_016875975.1:p.Asp763His | |
| XM_017020487.1:c.1978G>C | XP_016875976.1:p.Asp660His | |
| XM_017020488.1:c.1624G>C | XP_016875977.1:p.Asp542His | |
| XM_017020489.1:c.1606G>C | XP_016875978.1:p.Asp536His | |
| NM_004119.3:c.2503G>C MANE Select | NP_004110.2:p.Asp835His | |
| NR_130706.2:n.2701G>C |