Linked Data
dbSNP Id:
rs531373518
ExAC:
9:136131086 C / T
gnomAD v2:
9-136131086-C-T
gnomAD v3:
9-133255699-C-T
gnomAD v4:
9-133255699-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255699C>T , CM000671.2:g.133255699C>T | GRCh38 |
| NC_000009.11:g.136131086C>T , CM000671.1:g.136131086C>T | GRCh37 |
| NC_000009.10:g.135120907C>T | NCBI36 |
| NG_006669.1:g.21969G>A | |
| NG_006669.2:g.24517G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1061G>A | ||
| ENST00000647353.1:n.54-4547G>A | ||
| ENST00000679909.1:c.28+19463G>A | ENSP00000506089.1:n.28+19463G>A | |
| ENST00000453660.3:n.1043G>A | ||
| ENST00000538324.2:c.1029G>A | ENSP00000483018.1:p.Val343= | |
| ENST00000611156.4:c.1029G>A | ENSP00000483265.1:p.Val343= | |
| NM_020469.2:c.1032G>A | NP_065202.2:p.Val344= | |
| NM_020469.3:c.1032G>A | NP_065202.2:p.Val344= |