Linked Data
gnomAD v3:
6-31355198-G-A
gnomAD v4:
6-31355198-G-A
MyVariant Identifiers:
chr6:g.31322975G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31355198G>A , CM000668.2:g.31355198G>A | GRCh38 |
| NC_000006.11:g.31322975G>A , CM000668.1:g.31322975G>A | GRCh37 |
| NC_000006.10:g.31430954G>A | NCBI36 |
| NG_023187.1:g.7015C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.2968C>T | ||
| ENST00000481849.6:n.2487C>T | ||
| ENST00000497377.6:n.2394C>T | ||
| ENST00000640094.2:c.895+119C>T | ENSP00000491275.2:n.895+119C>T | |
| ENST00000696558.1:c.990C>T | ENSP00000512716.1:n.990C>T | |
| ENST00000696559.1:c.921C>T | ENSP00000512717.1:p.Pro307= | |
| ENST00000696560.1:c.921C>T | ENSP00000512718.1:p.Pro307= | |
| ENST00000696561.1:c.921C>T | ENSP00000512719.1:p.Pro307= | |
| ENST00000696562.1:c.921C>T | ENSP00000512720.1:p.Pro307= | |
| ENST00000412585.7:c.921C>T MANE Select | ENSP00000399168.2:p.Pro307= | |
| ENST00000640094.1:c.88+119C>T | ENSP00000491275.1:n.88+119C>T | |
| ENST00000412585.6:c.921C>T | ENSP00000399168.2:p.Pro307= | |
| ENST00000463574.1:n.512C>T | ||
| NM_005514.6:c.921C>T | NP_005505.2:p.Pro307= | |
| XM_011514556.1:c.954C>T | XP_011512858.1:p.Pro318= | |
| XM_011514557.1:c.895+119C>T | XP_011512859.1:n.895+119C>T | |
| XR_926175.1:n.1360C>T | ||
| NM_005514.7:c.921C>T | NP_005505.2:p.Pro307= | |
| NM_005514.8:c.921C>T MANE Select | NP_005505.2:p.Pro307= |