Linked Data
dbSNP Id:
rs369681614
ExAC:
6:31324951 G / A
gnomAD v2:
6-31324951-G-A
gnomAD v3:
6-31357174-G-A
gnomAD v4:
6-31357174-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31357174G>A , CM000668.2:g.31357174G>A | GRCh38 |
| NC_000006.11:g.31324951G>A , CM000668.1:g.31324951G>A | GRCh37 |
| NC_000006.10:g.31432930G>A | NCBI36 |
| NG_023187.1:g.5039C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1458C>T | ||
| ENST00000481849.6:n.1458C>T | ||
| ENST00000497377.6:n.1458C>T | ||
| ENST00000696559.1:c.-16C>T | ENSP00000512717.1:n.-16C>T | |
| ENST00000696560.1:c.-16C>T | ENSP00000512718.1:n.-16C>T | |
| ENST00000696561.1:c.-16C>T | ENSP00000512719.1:n.-16C>T | |
| ENST00000696562.1:c.-16C>T | ENSP00000512720.1:n.-16C>T | |
| ENST00000412585.7:c.-16C>T MANE Select | ENSP00000399168.2:n.-16C>T | |
| ENST00000412585.6:c.-16C>T | ENSP00000399168.2:n.-16C>T | |
| ENST00000434333.1:c.-111C>T | ENSP00000405931.1:n.-111C>T | |
| ENST00000498007.1:n.6C>T | ||
| ENST00000603274.1:n.528G>A | ||
| NM_005514.6:c.-16C>T | NP_005505.2:n.-16C>T | |
| NM_005514.7:c.-16C>T | NP_005505.2:n.-16C>T | |
| NM_005514.8:c.-16C>T MANE Select | NP_005505.2:n.-16C>T |