Linked Data
dbSNP Id:
rs755658
gnomAD v2:
6-35549670-C-T
gnomAD v3:
6-35581893-C-T
gnomAD v4:
6-35581893-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35581893C>T , CM000668.2:g.35581893C>T | GRCh38 |
| NC_000006.11:g.35549670C>T , CM000668.1:g.35549670C>T | GRCh37 |
| NC_000006.10:g.35657648C>T | NCBI36 |
| NG_012645.2:g.151691G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357266.9:c.841-1672G>A MANE Select | ENSP00000349811.3:n.841-1672G>A | |
| ENST00000357266.8:c.841-1672G>A | ENSP00000349811.3:n.841-1672G>A | |
| ENST00000536438.5:c.841-1672G>A | ENSP00000444810.1:n.841-1672G>A | |
| ENST00000539068.5:c.841-1672G>A | ENSP00000441205.1:n.841-1672G>A | |
| ENST00000542713.1:c.*5083G>A | ENSP00000442340.1:n.*5083G>A | |
| NM_001145775.2:c.841-1672G>A | NP_001139247.1:n.841-1672G>A | |
| NM_001145776.1:c.841-1672G>A | NP_001139248.1:n.841-1672G>A | |
| NM_001145777.1:c.*5083G>A | NP_001139249.1:n.*5083G>A | |
| NM_004117.3:c.841-1672G>A | NP_004108.1:n.841-1672G>A | |
| XR_242006.2:n.433-11137C>T | ||
| XR_242006.3:n.462-11137C>T | ||
| NM_001145775.3:c.841-1672G>A | NP_001139247.1:n.841-1672G>A | |
| NM_001145776.2:c.841-1672G>A | NP_001139248.1:n.841-1672G>A | |
| NM_001145777.2:c.*5083G>A | NP_001139249.1:n.*5083G>A | |
| NM_004117.4:c.841-1672G>A MANE Select | NP_004108.1:n.841-1672G>A |