Linked Data
ClinVar Variation Id:
398
ClinVar RCV Id:
RCV000022403
dbSNP Id:
rs121918128
ExAC:
9:139324843 C / T
gnomAD v2:
9-139324843-C-T
gnomAD v3:
9-136430391-C-T
gnomAD v4:
9-136430391-C-T
PubMed:
PMID:19668216
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136430391C>T , CM000671.2:g.136430391C>T | GRCh38 |
| NC_000009.11:g.139324843C>T , CM000671.1:g.139324843C>T | GRCh37 |
| NC_000009.10:g.138444664C>T | NCBI36 |
| NG_016126.1:g.14414G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371712.4:c.1688G>A MANE Select | ENSP00000360777.3:p.Arg563His | |
| ENST00000674693.1:n.205G>A | ||
| ENST00000676019.1:c.1586G>A | ENSP00000501984.1:p.Arg529His | |
| ENST00000371712.3:c.1688G>A | ENSP00000360777.3:p.Arg563His | |
| NM_019892.4:c.1688G>A | NP_063945.2:p.Arg563His | |
| XM_005266094.2:c.1685G>A | XP_005266151.1:p.Arg562His | |
| NM_001318502.1:c.1685G>A | NP_001305431.1:p.Arg562His | |
| NM_019892.5:c.1688G>A | NP_063945.2:p.Arg563His | |
| XM_017014926.1:c.1688G>A | XP_016870415.1:p.Arg563His | |
| XR_929828.2:n.2293G>A | ||
| NM_019892.6:c.1688G>A MANE Select | NP_063945.2:p.Arg563His | |
| NM_001318502.2:c.1685G>A | NP_001305431.1:p.Arg562His |