Linked Data
ClinVar Variation Id:
4710
ClinVar RCV Id:
RCV000004975
dbSNP Id:
rs119479064
gnomAD v3:
21-46435904-C-T
gnomAD v4:
21-46435904-C-T
PubMed:
PMID:18174396
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46435904C>T , CM000683.2:g.46435904C>T | GRCh38 |
| NC_000021.8:g.47855817C>T , CM000683.1:g.47855817C>T | GRCh37 |
| NC_000021.7:g.46680245C>T | NCBI36 |
| NG_008961.1:g.116782C>T | |
| NG_008961.2:g.116783C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000418394.2:c.1334C>T | ||
| ENST00000695527.1:n.3097C>T | ||
| ENST00000695528.1:c.2785C>T | ENSP00000511990.1:p.Arg929Ter | |
| ENST00000695529.1:n.2548C>T | ||
| ENST00000695530.1:c.1334C>T | ||
| ENST00000695531.1:n.2354C>T | ||
| ENST00000695532.1:n.2354C>T | ||
| ENST00000695533.1:n.1422C>T | ||
| ENST00000695534.1:n.1146C>T | ||
| ENST00000695535.1:n.227C>T | ||
| ENST00000695558.1:c.8785C>T | ENSP00000512015.1:p.Arg2929Ter | |
| ENST00000703224.1:c.*7995C>T | ENSP00000515242.1:n.*7995C>T | |
| ENST00000703226.1:n.1422C>T | ||
| ENST00000359568.10:c.8752C>T MANE Select | ENSP00000352572.5:p.Arg2918Ter | |
| ENST00000359568.9:c.8752C>T | ENSP00000352572.5:p.Arg2918Ter | |
| ENST00000480896.5:n.8784C>T | ||
| NM_001315529.1:c.8161C>T | NP_001302458.1:p.Arg2721Ter | |
| NM_006031.5:c.8752C>T | NP_006022.3:p.Arg2918Ter | |
| XM_005261124.3:c.8785C>T | XP_005261181.1:p.Arg2929Ter | |
| XM_011529593.1:c.8863C>T | XP_011527895.1:p.Arg2955Ter | |
| XM_011529594.1:c.8833C>T | XP_011527896.1:p.Arg2945Ter | |
| XM_005261124.5:c.8785C>T | XP_005261181.1:p.Arg2929Ter | |
| XM_011529594.3:c.8833C>T | XP_011527896.1:p.Arg2945Ter | |
| XM_017028362.2:c.8515C>T | XP_016883851.1:p.Arg2839Ter | |
| XM_017028363.1:c.8431C>T | XP_016883852.1:p.Arg2811Ter | |
| XM_024452082.1:c.7669C>T | XP_024307850.1:p.Arg2557Ter | |
| XM_024452083.1:c.6565C>T | XP_024307851.1:p.Arg2189Ter | |
| NM_006031.6:c.8752C>T MANE Select | NP_006022.3:p.Arg2918Ter | |
| NM_001315529.2:c.8161C>T | NP_001302458.1:p.Arg2721Ter |