Linked Data
ClinVar Variation Id:
400
ClinVar RCV Id:
RCV000022405
RCV000636941
RCV000735369
RCV001267543
RCV001550720
RCV002265543
RCV004532266
dbSNP Id:
rs121918130
ExAC:
9:139327634 G / A
gnomAD v2:
9-139327634-G-A
gnomAD v3:
9-136433182-G-A
gnomAD v4:
9-136433182-G-A
PubMed:
PMID:19668216
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136433182G>A , CM000671.2:g.136433182G>A | GRCh38 |
| NC_000009.11:g.139327634G>A , CM000671.1:g.139327634G>A | GRCh37 |
| NC_000009.10:g.138447455G>A | NCBI36 |
| NG_016126.1:g.11623C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371712.4:c.1132C>T MANE Select | ENSP00000360777.3:p.Arg378Cys | |
| ENST00000676019.1:c.1035-5C>T | ENSP00000501984.1:n.1035-5C>T | |
| ENST00000371712.3:c.1132C>T | ENSP00000360777.3:p.Arg378Cys | |
| NM_019892.4:c.1132C>T | NP_063945.2:p.Arg378Cys | |
| XM_005266094.2:c.1132C>T | XP_005266151.1:p.Arg378Cys | |
| XR_929828.1:n.1572C>T | ||
| NM_001318502.1:c.1132C>T | NP_001305431.1:p.Arg378Cys | |
| NM_019892.5:c.1132C>T | NP_063945.2:p.Arg378Cys | |
| XM_017014926.1:c.1132C>T | XP_016870415.1:p.Arg378Cys | |
| XR_929828.2:n.1574C>T | ||
| NM_019892.6:c.1132C>T MANE Select | NP_063945.2:p.Arg378Cys | |
| NM_001318502.2:c.1132C>T | NP_001305431.1:p.Arg378Cys |