Linked Data
dbSNP Id:
rs3738433
gnomAD v2:
1-240286716-G-A
gnomAD v3:
1-240123416-G-A
gnomAD v4:
1-240123416-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.240123416G>A , CM000663.2:g.240123416G>A | GRCh38 |
| NC_000001.10:g.240286716G>A , CM000663.1:g.240286716G>A | GRCh37 |
| NC_000001.9:g.238353339G>A | NCBI36 |
| NG_042054.1:g.36532G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000319653.14:c.1782+71G>A MANE Select | ENSP00000318884.9:n.1782+71G>A | |
| ENST00000681210.1:c.81+71G>A | ENSP00000505131.1:n.81+71G>A | |
| ENST00000681741.1:c.81+71G>A | ENSP00000505116.1:n.81+71G>A | |
| ENST00000681824.1:c.81+71G>A | ENSP00000505818.1:n.81+71G>A | |
| ENST00000319653.13:c.1782+71G>A | ENSP00000318884.9:n.1782+71G>A | |
| ENST00000447095.5:c.81+71G>A | ENSP00000409308.1:n.81+71G>A | |
| NM_001305424.1:c.1782+71G>A | NP_001292353.1:n.1782+71G>A | |
| NM_020066.4:c.1782+71G>A | NP_064450.3:n.1782+71G>A | |
| XM_011544237.1:c.1782+71G>A | XP_011542539.1:n.1782+71G>A | |
| XR_949151.1:n.2003+71G>A | ||
| NM_001348094.1:c.1782+71G>A | NP_001335023.1:n.1782+71G>A | |
| XM_011544237.3:c.1782+71G>A | XP_011542539.1:n.1782+71G>A | |
| XM_017001837.1:c.1782+71G>A | XP_016857326.1:n.1782+71G>A | |
| XM_017001838.1:c.1782+71G>A | XP_016857327.1:n.1782+71G>A | |
| NM_020066.5:c.1782+71G>A MANE Select | NP_064450.3:n.1782+71G>A | |
| NM_001305424.2:c.1782+71G>A | NP_001292353.1:n.1782+71G>A | |
| NM_001348094.2:c.1782+71G>A | NP_001335023.1:n.1782+71G>A |