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:
555138
dbSNP Id:
rs782279338
ExAC:
11:76871311 C / T
gnomAD v2:
11-76871311-C-T
gnomAD v4:
11-77160265-C-T
COSMIC:
COSM5500025
ERepo:
CA6197402/MONDO:0019497/005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77160265C>T , CM000673.2:g.77160265C>T | GRCh38 |
| NC_000011.9:g.76871311C>T , CM000673.1:g.76871311C>T | GRCh37 |
| NC_000011.8:g.76548959C>T | NCBI36 |
| NG_009086.1:g.37002C>T | |
| NG_009086.2:g.37020C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409709.9:c.1183C>T MANE Select | ENSP00000386331.3:p.Arg395Cys | |
| ENST00000409619.6:c.1150C>T | ENSP00000386635.2:p.Arg384Cys | |
| ENST00000409709.7:c.1183C>T | ENSP00000386331.3:p.Arg395Cys | |
| ENST00000409893.5:c.1183C>T | ENSP00000386689.1:p.Arg395Cys | |
| ENST00000458637.6:c.1183C>T | ENSP00000392185.2:p.Arg395Cys | |
| ENST00000620575.4:c.1183C>T | ENSP00000477640.1:p.Arg395Cys | |
| NM_000260.3:c.1183C>T | NP_000251.3:p.Arg395Cys | |
| NM_001127179.2:c.1183C>T | NP_001120651.2:p.Arg395Cys | |
| NM_001127180.1:c.1183C>T | NP_001120652.1:p.Arg395Cys | |
| XM_005274012.2:c.1183C>T | XP_005274069.1:p.Arg395Cys | |
| XM_006718558.2:c.1183C>T | XP_006718621.1:p.Arg395Cys | |
| XM_006718559.2:c.1183C>T | XP_006718622.1:p.Arg395Cys | |
| XM_006718560.2:c.1183C>T | XP_006718623.1:p.Arg395Cys | |
| XM_006718561.2:c.1183C>T | XP_006718624.1:p.Arg395Cys | |
| XM_011545044.1:c.1183C>T | XP_011543346.1:p.Arg395Cys | |
| XM_011545045.1:c.1183C>T | XP_011543347.1:p.Arg395Cys | |
| XM_011545046.1:c.1150C>T | XP_011543348.1:p.Arg384Cys | |
| XM_011545047.1:c.1183C>T | XP_011543349.1:p.Arg395Cys | |
| XM_011545048.1:c.1183C>T | XP_011543350.1:p.Arg395Cys | |
| XM_011545049.1:c.952C>T | XP_011543351.1:p.Arg318Cys | |
| XM_011545050.1:c.925C>T | XP_011543352.1:p.Arg309Cys | |
| XM_011545051.1:c.1183C>T | XP_011543353.1:p.Arg395Cys | |
| XM_011545052.1:c.1183C>T | XP_011543354.1:p.Arg395Cys | |
| XR_949938.1:n.1503C>T | ||
| XR_949941.1:n.1503C>T | ||
| XR_949942.1:n.1505C>T | ||
| XR_949943.1:n.1505C>T | ||
| XM_011545044.2:c.1183C>T | XP_011543346.1:p.Arg395Cys | |
| XM_011545046.2:c.1273C>T | XP_011543348.2:p.Arg425Cys | |
| XM_011545050.2:c.925C>T | XP_011543352.1:p.Arg309Cys | |
| XM_017017778.1:c.1273C>T | XP_016873267.1:p.Arg425Cys | |
| XM_017017779.1:c.1273C>T | XP_016873268.1:p.Arg425Cys | |
| XM_017017780.1:c.1273C>T | XP_016873269.1:p.Arg425Cys | |
| XM_017017781.1:c.1273C>T | XP_016873270.1:p.Arg425Cys | |
| XM_017017782.1:c.1273C>T | XP_016873271.1:p.Arg425Cys | |
| XM_017017783.1:c.1273C>T | XP_016873272.1:p.Arg425Cys | |
| XM_017017784.1:c.1273C>T | XP_016873273.1:p.Arg425Cys | |
| XM_017017785.1:c.1042C>T | XP_016873274.1:p.Arg348Cys | |
| XM_017017786.1:c.1273C>T | XP_016873275.1:p.Arg425Cys | |
| XM_017017787.1:c.1273C>T | XP_016873276.1:p.Arg425Cys | |
| XM_017017788.1:c.1273C>T | XP_016873277.1:p.Arg425Cys | |
| XR_001747885.1:n.1288C>T | ||
| XR_001747886.1:n.1288C>T | ||
| XR_001747887.1:n.1288C>T | ||
| XR_001747888.1:n.1288C>T | ||
| XR_001747889.1:n.1288C>T | ||
| NM_000260.4:c.1183C>T MANE Select | NP_000251.3:p.Arg395Cys | |
| NM_001127180.2:c.1183C>T | NP_001120652.1:p.Arg395Cys | |
| NM_001369365.1:c.1150C>T | NP_001356294.1:p.Arg384Cys |