Linked Data
gnomAD v3:
6-31355183-A-C
gnomAD v4:
6-31355183-A-C
MyVariant Identifiers:
chr6:g.31322960A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31355183A>C , CM000668.2:g.31355183A>C | GRCh38 |
| NC_000006.11:g.31322960A>C , CM000668.1:g.31322960A>C | GRCh37 |
| NC_000006.10:g.31430939A>C | NCBI36 |
| NG_023187.1:g.7030T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.2983T>G | ||
| ENST00000481849.6:n.2502T>G | ||
| ENST00000497377.6:n.2409T>G | ||
| ENST00000640094.2:c.895+134T>G | ENSP00000491275.2:n.895+134T>G | |
| ENST00000696558.1:c.1005T>G | ENSP00000512716.1:n.1005T>G | |
| ENST00000696559.1:c.936T>G | ENSP00000512717.1:p.Val312= | |
| ENST00000696560.1:c.936T>G | ENSP00000512718.1:p.Val312= | |
| ENST00000696561.1:c.936T>G | ENSP00000512719.1:p.Val312= | |
| ENST00000696562.1:c.936T>G | ENSP00000512720.1:p.Val312= | |
| ENST00000412585.7:c.936T>G MANE Select | ENSP00000399168.2:p.Val312= | |
| ENST00000640094.1:c.88+134T>G | ENSP00000491275.1:n.88+134T>G | |
| ENST00000412585.6:c.936T>G | ENSP00000399168.2:p.Val312= | |
| ENST00000463574.1:n.527T>G | ||
| NM_005514.6:c.936T>G | NP_005505.2:p.Val312= | |
| XM_011514556.1:c.969T>G | XP_011512858.1:p.Val323= | |
| XM_011514557.1:c.895+134T>G | XP_011512859.1:n.895+134T>G | |
| XR_926175.1:n.1375T>G | ||
| NM_005514.7:c.936T>G | NP_005505.2:p.Val312= | |
| NM_005514.8:c.936T>G MANE Select | NP_005505.2:p.Val312= |