Linked Data
dbSNP Id:
rs41273028
gnomAD v2:
6-31322971-C-A
gnomAD v3:
6-31355194-C-A
gnomAD v4:
6-31355194-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31355194C>A , CM000668.2:g.31355194C>A | GRCh38 |
| NC_000006.11:g.31322971C>A , CM000668.1:g.31322971C>A | GRCh37 |
| NC_000006.10:g.31430950C>A | NCBI36 |
| NG_023187.1:g.7019G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.2972G>T | ||
| ENST00000481849.6:n.2491G>T | ||
| ENST00000497377.6:n.2398G>T | ||
| ENST00000640094.2:c.895+123G>T | ENSP00000491275.2:n.895+123G>T | |
| ENST00000696558.1:c.994G>T | ENSP00000512716.1:n.994G>T | |
| ENST00000696559.1:c.925G>T | ENSP00000512717.1:p.Val309Leu | |
| ENST00000696560.1:c.925G>T | ENSP00000512718.1:p.Val309Leu | |
| ENST00000696561.1:c.925G>T | ENSP00000512719.1:p.Val309Leu | |
| ENST00000696562.1:c.925G>T | ENSP00000512720.1:p.Val309Leu | |
| ENST00000412585.7:c.925G>T MANE Select | ENSP00000399168.2:p.Val309Leu | |
| ENST00000640094.1:c.88+123G>T | ENSP00000491275.1:n.88+123G>T | |
| ENST00000412585.6:c.925G>T | ENSP00000399168.2:p.Val309Leu | |
| ENST00000463574.1:n.516G>T | ||
| NM_005514.6:c.925G>T | NP_005505.2:p.Val309Leu | |
| XM_011514556.1:c.958G>T | XP_011512858.1:p.Val320Leu | |
| XM_011514557.1:c.895+123G>T | XP_011512859.1:n.895+123G>T | |
| XR_926175.1:n.1364G>T | ||
| NM_005514.7:c.925G>T | NP_005505.2:p.Val309Leu | |
| NM_005514.8:c.925G>T MANE Select | NP_005505.2:p.Val309Leu |