Linked Data
ClinVar Variation Id:
1423
ClinVar RCV Id:
RCV000001488
RCV000153508
RCV000721968
RCV001250251
RCV001273221
RCV001813934
RCV002512645
dbSNP Id:
rs121918241
ExAC:
1:45974001 C / T
gnomAD v2:
1-45974001-C-T
gnomAD v3:
1-45508329-C-T
gnomAD v4:
1-45508329-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45508329C>T , CM000663.2:g.45508329C>T | GRCh38 |
| NC_000001.10:g.45974001C>T , CM000663.1:g.45974001C>T | GRCh37 |
| NC_000001.9:g.45746588C>T | NCBI36 |
| NG_013378.1:g.13146C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.394C>T MANE Select | ENSP00000383840.4:p.Arg132Ter | |
| ENST00000401061.8:c.394C>T | ENSP00000383840.4:p.Arg132Ter | |
| ENST00000616135.1:c.223C>T | ENSP00000478859.1:p.Arg75Ter | |
| NM_015506.2:c.394C>T | NP_056321.2:p.Arg132Ter | |
| XM_005270724.3:c.199C>T | XP_005270781.1:p.Arg67Ter | |
| XM_011541204.1:c.223C>T | XP_011539506.1:p.Arg75Ter | |
| NM_001330540.1:c.223C>T | NP_001317469.1:p.Arg75Ter | |
| XM_005270724.5:c.199C>T | XP_005270781.1:p.Arg67Ter | |
| NM_015506.3:c.394C>T MANE Select | NP_056321.2:p.Arg132Ter | |
| NM_001330540.2:c.223C>T | NP_001317469.1:p.Arg75Ter |