Linked Data
dbSNP Id:
rs146678129
gnomAD v2:
8-20111168-G-A
gnomAD v3:
8-20253657-G-A
gnomAD v4:
8-20253657-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.20253657G>A , CM000670.2:g.20253657G>A | GRCh38 |
| NC_000008.10:g.20111168G>A , CM000670.1:g.20111168G>A | GRCh37 |
| NC_000008.9:g.20155448G>A | NCBI36 |
| NG_015834.2:g.6636C>T | |
| NG_015834.3:g.55325C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265801.6:c.346-72C>T | ENSP00000265801.6:n.346-72C>T | |
| ENST00000381569.5:c.346-72C>T MANE Select | ENSP00000370981.1:n.346-72C>T | |
| ENST00000522290.5:c.346-72C>T | ENSP00000429263.1:n.346-72C>T | |
| ENST00000616228.1:c.157+1368C>T | ENSP00000479534.1:n.157+1368C>T | |
| NM_021020.3:c.346-72C>T | NP_066300.1:n.346-72C>T | |
| XM_005273394.3:c.346-72C>T | XP_005273451.1:n.346-72C>T | |
| XM_011544383.1:c.346-72C>T | XP_011542685.1:n.346-72C>T | |
| XM_011544384.1:c.346-72C>T | XP_011542686.1:n.346-72C>T | |
| XM_011544385.1:c.346-72C>T | XP_011542687.1:n.346-72C>T | |
| XM_011544386.1:c.346-72C>T | XP_011542688.1:n.346-72C>T | |
| XM_011544387.1:c.346-72C>T | XP_011542689.1:n.346-72C>T | |
| NM_001362884.1:c.346-72C>T | NP_001349813.1:n.346-72C>T | |
| NM_021020.4:c.346-72C>T | NP_066300.1:n.346-72C>T | |
| XM_011544384.2:c.346-72C>T | XP_011542686.1:n.346-72C>T | |
| XM_011544385.2:c.346-72C>T | XP_011542687.1:n.346-72C>T | |
| XM_011544386.2:c.346-72C>T | XP_011542688.1:n.346-72C>T | |
| NM_021020.5:c.346-72C>T MANE Select | NP_066300.1:n.346-72C>T | |
| NM_001362884.2:c.346-72C>T | NP_001349813.1:n.346-72C>T |