Linked Data
dbSNP Id:
rs1272421287
gnomAD v2:
6-31322745-G-A
gnomAD v3:
6-31354968-G-A
gnomAD v4:
6-31354968-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31354968G>A , CM000668.2:g.31354968G>A | GRCh38 |
| NC_000006.11:g.31322745G>A , CM000668.1:g.31322745G>A | GRCh37 |
| NC_000006.10:g.31430724G>A | NCBI36 |
| NG_023187.1:g.7245C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.3059+139C>T | ||
| ENST00000481849.6:n.2717C>T | ||
| ENST00000497377.6:n.2624C>T | ||
| ENST00000640094.2:c.896-303C>T | ENSP00000491275.2:n.896-303C>T | |
| ENST00000696558.1:c.1081+139C>T | ENSP00000512716.1:n.1081+139C>T | |
| ENST00000696559.1:c.1012+139C>T | ENSP00000512717.1:n.1012+139C>T | |
| ENST00000696560.1:c.1012+139C>T | ENSP00000512718.1:n.1012+139C>T | |
| ENST00000696561.1:c.1012+139C>T | ENSP00000512719.1:n.1012+139C>T | |
| ENST00000696562.1:c.1012+139C>T | ENSP00000512720.1:n.1012+139C>T | |
| ENST00000412585.7:c.1012+139C>T MANE Select | ENSP00000399168.2:n.1012+139C>T | |
| ENST00000640094.1:c.89-303C>T | ENSP00000491275.1:n.89-303C>T | |
| ENST00000412585.6:c.1012+139C>T | ENSP00000399168.2:n.1012+139C>T | |
| ENST00000497377.5:n.109C>T | ||
| NM_005514.6:c.1012+139C>T | NP_005505.2:n.1012+139C>T | |
| XM_011514556.1:c.1045+139C>T | XP_011512858.1:n.1045+139C>T | |
| XM_011514557.1:c.896-303C>T | XP_011512859.1:n.896-303C>T | |
| XR_926175.1:n.1451+139C>T | ||
| NM_005514.7:c.1012+139C>T | NP_005505.2:n.1012+139C>T | |
| NM_005514.8:c.1012+139C>T MANE Select | NP_005505.2:n.1012+139C>T |