Linked Data
dbSNP Id:
rs71563314
gnomAD v2:
6-31321961-G-A
gnomAD v3:
6-31354184-G-A
gnomAD v4:
6-31354184-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31354184G>A , CM000668.2:g.31354184G>A | GRCh38 |
| NC_000006.11:g.31321961G>A , CM000668.1:g.31321961G>A | GRCh37 |
| NC_000006.10:g.31429940G>A | NCBI36 |
| NG_023187.1:g.8029C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.3253C>T | ||
| ENST00000481849.6:n.3213C>T | ||
| ENST00000497377.6:n.3120C>T | ||
| ENST00000696558.1:c.1275C>T | ENSP00000512716.1:n.1275C>T | |
| ENST00000696559.1:c.*117C>T | ENSP00000512717.1:n.*117C>T | |
| ENST00000696560.1:c.*117C>T | ENSP00000512718.1:n.*117C>T | |
| ENST00000696561.1:c.*117C>T | ENSP00000512719.1:n.*117C>T | |
| ENST00000696562.1:c.*117C>T | ENSP00000512720.1:n.*117C>T | |
| ENST00000412585.7:c.*117C>T MANE Select | ENSP00000399168.2:n.*117C>T | |
| ENST00000412585.6:c.*117C>T | ENSP00000399168.2:n.*117C>T | |
| ENST00000481849.5:n.441C>T | ||
| ENST00000497377.5:n.605C>T | ||
| NM_005514.6:c.*117C>T | NP_005505.2:n.*117C>T | |
| XM_011514556.1:c.*117C>T | XP_011512858.1:n.*117C>T | |
| XM_011514557.1:c.*117C>T | XP_011512859.1:n.*117C>T | |
| XR_926175.1:n.1645C>T | ||
| NM_005514.7:c.*117C>T | NP_005505.2:n.*117C>T | |
| NM_005514.8:c.*117C>T MANE Select | NP_005505.2:n.*117C>T |