Linked Data
gnomAD v3:
6-31355192-C-A
gnomAD v4:
6-31355192-C-A
MyVariant Identifiers:
chr6:g.31322969C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31355192C>A , CM000668.2:g.31355192C>A | GRCh38 |
| NC_000006.11:g.31322969C>A , CM000668.1:g.31322969C>A | GRCh37 |
| NC_000006.10:g.31430948C>A | NCBI36 |
| NG_023187.1:g.7021G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.2974G>T | ||
| ENST00000481849.6:n.2493G>T | ||
| ENST00000497377.6:n.2400G>T | ||
| ENST00000640094.2:c.895+125G>T | ENSP00000491275.2:n.895+125G>T | |
| ENST00000696558.1:c.996G>T | ENSP00000512716.1:n.996G>T | |
| ENST00000696559.1:c.927G>T | ENSP00000512717.1:p.Val309= | |
| ENST00000696560.1:c.927G>T | ENSP00000512718.1:p.Val309= | |
| ENST00000696561.1:c.927G>T | ENSP00000512719.1:p.Val309= | |
| ENST00000696562.1:c.927G>T | ENSP00000512720.1:p.Val309= | |
| ENST00000412585.7:c.927G>T MANE Select | ENSP00000399168.2:p.Val309= | |
| ENST00000640094.1:c.88+125G>T | ENSP00000491275.1:n.88+125G>T | |
| ENST00000412585.6:c.927G>T | ENSP00000399168.2:p.Val309= | |
| ENST00000463574.1:n.518G>T | ||
| NM_005514.6:c.927G>T | NP_005505.2:p.Val309= | |
| XM_011514556.1:c.960G>T | XP_011512858.1:p.Val320= | |
| XM_011514557.1:c.895+125G>T | XP_011512859.1:n.895+125G>T | |
| XR_926175.1:n.1366G>T | ||
| NM_005514.7:c.927G>T | NP_005505.2:p.Val309= | |
| NM_005514.8:c.927G>T MANE Select | NP_005505.2:p.Val309= |