Linked Data
dbSNP Id:
rs745383368
ExAC:
1:15772063 G / A
gnomAD v2:
1-15772063-G-A
gnomAD v3:
1-15445568-G-A
gnomAD v4:
1-15445568-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445568G>A , CM000663.2:g.15445568G>A | GRCh38 |
| NC_000001.10:g.15772063G>A , CM000663.1:g.15772063G>A | GRCh37 |
| NC_000001.9:g.15644650G>A | NCBI36 |
| NG_009253.1:g.12126G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.640-29G>A MANE Select | ENSP00000365116.4:n.640-29G>A | |
| ENST00000375943.6:c.*94-29G>A | ENSP00000365110.2:n.*94-29G>A | |
| ENST00000375949.4:c.640-29G>A | ENSP00000365116.4:n.640-29G>A | |
| ENST00000483406.1:n.404-29G>A | ||
| NM_007272.2:c.640-29G>A | NP_009203.2:n.640-29G>A | |
| XM_011540550.1:c.494-29G>A | XP_011538852.1:n.494-29G>A | |
| NM_007272.3:c.640-29G>A MANE Select | NP_009203.2:n.640-29G>A |