Linked Data
dbSNP Id:
rs17199279
gnomAD v2:
6-31322143-C-T
gnomAD v3:
6-31354366-C-T
gnomAD v4:
6-31354366-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31354366C>T , CM000668.2:g.31354366C>T | GRCh38 |
| NC_000006.11:g.31322143C>T , CM000668.1:g.31322143C>T | GRCh37 |
| NC_000006.10:g.31430122C>T | NCBI36 |
| NG_023187.1:g.7847G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474381.2:n.3141-70G>A | ||
| ENST00000481849.6:n.3101-70G>A | ||
| ENST00000497377.6:n.3008-70G>A | ||
| ENST00000696558.1:c.1163-70G>A | ENSP00000512716.1:n.1163-70G>A | |
| ENST00000696559.1:c.*5-70G>A | ENSP00000512717.1:n.*5-70G>A | |
| ENST00000696560.1:c.*5-70G>A | ENSP00000512718.1:n.*5-70G>A | |
| ENST00000696561.1:c.*5-70G>A | ENSP00000512719.1:n.*5-70G>A | |
| ENST00000696562.1:c.*5-70G>A | ENSP00000512720.1:n.*5-70G>A | |
| ENST00000412585.7:c.*5-70G>A MANE Select | ENSP00000399168.2:n.*5-70G>A | |
| ENST00000412585.6:c.*5-70G>A | ENSP00000399168.2:n.*5-70G>A | |
| ENST00000481849.5:n.329-70G>A | ||
| ENST00000497377.5:n.493-70G>A | ||
| NM_005514.6:c.*5-70G>A | NP_005505.2:n.*5-70G>A | |
| XM_011514556.1:c.*5-70G>A | XP_011512858.1:n.*5-70G>A | |
| XM_011514557.1:c.*5-70G>A | XP_011512859.1:n.*5-70G>A | |
| XR_926175.1:n.1533-70G>A | ||
| NM_005514.7:c.*5-70G>A | NP_005505.2:n.*5-70G>A | |
| NM_005514.8:c.*5-70G>A MANE Select | NP_005505.2:n.*5-70G>A |