Linked Data
dbSNP Id:
rs8176741
ExAC:
9:136131461 G / A
gnomAD v2:
9-136131461-G-A
gnomAD v3:
9-133256074-G-A
gnomAD v4:
9-133256074-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256074G>A , CM000671.2:g.133256074G>A | GRCh38 |
| NC_000009.11:g.136131461G>A , CM000671.1:g.136131461G>A | GRCh37 |
| NC_000009.10:g.135121282G>A | NCBI36 |
| NG_006669.1:g.21594C>T | |
| NG_006669.2:g.24142C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.686C>T | ||
| ENST00000647353.1:n.54-4922C>T | ||
| ENST00000679909.1:c.28+19088C>T | ENSP00000506089.1:n.28+19088C>T | |
| ENST00000453660.3:n.668C>T | ||
| ENST00000538324.2:c.654C>T | ENSP00000483018.1:p.His218= | |
| ENST00000611156.4:c.654C>T | ENSP00000483265.1:p.His218= | |
| NM_020469.2:c.657C>T | NP_065202.2:p.His219= | |
| NM_020469.3:c.657C>T | NP_065202.2:p.His219= |