Linked Data
ClinVar Variation Id:
7310
ClinVar RCV Id:
RCV000007733
dbSNP Id:
rs121909086
gnomAD v4:
9-91737400-G-A
PubMed:
PMID:10932187
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91737400G>A , CM000671.2:g.91737400G>A | GRCh38 |
| NC_000009.11:g.94499682G>A , CM000671.1:g.94499682G>A | GRCh37 |
| NC_000009.10:g.93539503G>A | NCBI36 |
| NG_008089.1:g.217763C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.613C>T MANE Select | ENSP00000364860.3:p.Arg205Ter | |
| ENST00000375708.3:c.613C>T | ENSP00000364860.3:p.Arg205Ter | |
| ENST00000375715.5:c.193C>T | ENSP00000364867.1:p.Arg65Ter | |
| ENST00000550066.5:n.1081C>T | ||
| NM_004560.3:c.613C>T | NP_004551.2:p.Arg205Ter | |
| XM_005252008.3:c.193C>T | XP_005252065.1:p.Arg65Ter | |
| XM_006717121.2:c.193C>T | XP_006717184.1:p.Arg65Ter | |
| XM_011518721.1:c.193C>T | XP_011517023.1:p.Arg65Ter | |
| NM_001318204.1:c.613C>T | NP_001305133.1:p.Arg205Ter | |
| XM_005252008.4:c.193C>T | XP_005252065.1:p.Arg65Ter | |
| XM_006717121.3:c.193C>T | XP_006717184.1:p.Arg65Ter | |
| XM_017014762.1:c.604C>T | XP_016870251.1:p.Arg202Ter | |
| XM_017014763.1:c.193C>T | XP_016870252.1:p.Arg65Ter | |
| XR_001746315.1:n.856C>T | ||
| NM_004560.4:c.613C>T MANE Select | NP_004551.2:p.Arg205Ter | |
| NM_001318204.2:c.613C>T | NP_001305133.1:p.Arg205Ter |