Linked Data
dbSNP Id:
rs771164071
ExAC:
17:15930981 G / T
gnomAD v3:
17-16027667-G-T
gnomAD v4:
17-16027667-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16027667G>T , CM000679.2:g.16027667G>T | GRCh38 |
| NC_000017.10:g.15930981G>T , CM000679.1:g.15930981G>T | GRCh37 |
| NC_000017.9:g.15871706G>T | NCBI36 |
| NG_029806.1:g.33288G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.10:c.*145G>T MANE Select | ENSP00000261647.5:n.*145G>T | |
| ENST00000261647.9:c.*145G>T | ENSP00000261647.5:n.*145G>T | |
| ENST00000465567.1:n.1682G>T | ||
| ENST00000470649.1:c.247+965G>T | ENSP00000465627.1:n.247+965G>T | |
| ENST00000475723.5:c.1472G>T | ||
| ENST00000481107.1:n.1956G>T | ||
| NM_001271420.1:c.*145G>T | NP_001258349.1:n.*145G>T | |
| NM_017775.3:c.*145G>T | NP_060245.3:n.*145G>T | |
| XM_017024801.2:c.994+965G>T | XP_016880290.2:n.994+965G>T | |
| XM_017024802.2:c.994+965G>T | XP_016880291.2:n.994+965G>T | |
| NM_017775.4:c.*145G>T MANE Select | NP_060245.3:n.*145G>T | |
| NM_001271420.2:c.*145G>T | NP_001258349.1:n.*145G>T |