Linked Data
dbSNP Id:
rs759997684
ExAC:
10:82034251 G / A
gnomAD v2:
10-82034251-G-A
gnomAD v3:
10-80274495-G-A
gnomAD v4:
10-80274495-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80274495G>A , CM000672.2:g.80274495G>A | GRCh38 |
| NC_000010.10:g.82034251G>A , CM000672.1:g.82034251G>A | GRCh37 |
| NC_000010.9:g.82024231G>A | NCBI36 |
| NG_008083.1:g.20184C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.1085+25C>T MANE Select | ENSP00000361287.3:n.1085+25C>T | |
| ENST00000372213.7:c.1085+25C>T | ENSP00000361287.3:n.1085+25C>T | |
| ENST00000480845.1:n.317+25C>T | ||
| ENST00000485270.5:n.597+25C>T | ||
| NM_000429.2:c.1085+25C>T | NP_000420.1:n.1085+25C>T | |
| XM_005269842.3:c.1085+25C>T | XP_005269899.1:n.1085+25C>T | |
| XM_005269843.3:c.962+25C>T | XP_005269900.1:n.962+25C>T | |
| NM_000429.3:c.1085+25C>T MANE Select | NP_000420.1:n.1085+25C>T |