Linked Data
dbSNP Id:
rs41551114
ExAC:
6:31322937 A / G
gnomAD v2:
6-31322937-A-G
gnomAD v3:
6-31355160-A-G
gnomAD v4:
6-31355160-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31355160A>G , CM000668.2:g.31355160A>G | GRCh38 |
| NC_000006.11:g.31322937A>G , CM000668.1:g.31322937A>G | GRCh37 |
| NC_000006.10:g.31430916A>G | NCBI36 |
| NG_023187.1:g.7053T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474381.2:n.3006T>C | ||
| ENST00000481849.6:n.2525T>C | ||
| ENST00000497377.6:n.2432T>C | ||
| ENST00000640094.2:c.895+157T>C | ENSP00000491275.2:n.895+157T>C | |
| ENST00000696558.1:c.1028T>C | ENSP00000512716.1:n.1028T>C | |
| ENST00000696559.1:c.959T>C | ENSP00000512717.1:p.Val320Ala | |
| ENST00000696560.1:c.959T>C | ENSP00000512718.1:p.Val320Ala | |
| ENST00000696561.1:c.959T>C | ENSP00000512719.1:p.Val320Ala | |
| ENST00000696562.1:c.959T>C | ENSP00000512720.1:p.Val320Ala | |
| ENST00000412585.7:c.959T>C MANE Select | ENSP00000399168.2:p.Val320Ala | |
| ENST00000640094.1:c.88+157T>C | ENSP00000491275.1:n.88+157T>C | |
| ENST00000412585.6:c.959T>C | ENSP00000399168.2:p.Val320Ala | |
| ENST00000463574.1:n.550T>C | ||
| NM_005514.6:c.959T>C | NP_005505.2:p.Val320Ala | |
| XM_011514556.1:c.992T>C | XP_011512858.1:p.Val331Ala | |
| XM_011514557.1:c.895+157T>C | XP_011512859.1:n.895+157T>C | |
| XR_926175.1:n.1398T>C | ||
| NM_005514.7:c.959T>C | NP_005505.2:p.Val320Ala | |
| NM_005514.8:c.959T>C MANE Select | NP_005505.2:p.Val320Ala |