Linked Data
dbSNP Id:
rs1247136475
gnomAD v2:
6-31322297-T-C
gnomAD v3:
6-31354520-T-C
gnomAD v4:
6-31354520-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31354520T>C , CM000668.2:g.31354520T>C | GRCh38 |
| NC_000006.11:g.31322297T>C , CM000668.1:g.31322297T>C | GRCh37 |
| NC_000006.10:g.31430276T>C | NCBI36 |
| NG_023187.1:g.7693A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.3099A>G | ||
| ENST00000481849.6:n.3059A>G | ||
| ENST00000497377.6:n.2966A>G | ||
| ENST00000640094.2:c.935A>G | ENSP00000491275.2:p.Asp312Gly | |
| ENST00000696558.1:c.1121A>G | ENSP00000512716.1:n.1121A>G | |
| ENST00000696559.1:c.1052A>G | ENSP00000512717.1:p.Asp351Gly | |
| ENST00000696560.1:c.1052A>G | ENSP00000512718.1:p.Asp351Gly | |
| ENST00000696561.1:c.1052A>G | ENSP00000512719.1:p.Asp351Gly | |
| ENST00000696562.1:c.1052A>G | ENSP00000512720.1:p.Asp351Gly | |
| ENST00000412585.7:c.1052A>G MANE Select | ENSP00000399168.2:p.Asp351Gly | |
| ENST00000640094.1:c.128A>G | ENSP00000491275.1:p.Asp43Gly | |
| ENST00000412585.6:c.1052A>G | ENSP00000399168.2:p.Asp351Gly | |
| ENST00000481849.5:n.287A>G | ||
| ENST00000497377.5:n.451A>G | ||
| NM_005514.6:c.1052A>G | NP_005505.2:p.Asp351Gly | |
| XM_011514556.1:c.1085A>G | XP_011512858.1:p.Asp362Gly | |
| XM_011514557.1:c.935A>G | XP_011512859.1:p.Asp312Gly | |
| XR_926175.1:n.1491A>G | ||
| NM_005514.7:c.1052A>G | NP_005505.2:p.Asp351Gly | |
| NM_005514.8:c.1052A>G MANE Select | NP_005505.2:p.Asp351Gly |