Linked Data
dbSNP Id:
rs12091371
gnomAD v2:
1-240605052-G-A
gnomAD v3:
1-240441752-G-A
gnomAD v4:
1-240441752-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.240441752G>A , CM000663.2:g.240441752G>A | GRCh38 |
| NC_000001.10:g.240605052G>A , CM000663.1:g.240605052G>A | GRCh37 |
| NC_000001.9:g.238671675G>A | NCBI36 |
| NG_042054.1:g.354868G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000319653.14:c.5060+3542G>A MANE Select | ENSP00000318884.9:n.5060+3542G>A | |
| ENST00000545751.3:c.901+3542G>A | ||
| ENST00000679390.1:n.1322+3542G>A | ||
| ENST00000679646.1:n.4526+3542G>A | ||
| ENST00000679980.1:c.1329+3542G>A | ||
| ENST00000681131.1:c.1060+3542G>A | ||
| ENST00000681210.1:c.1280+3542G>A | ENSP00000505131.1:n.1280+3542G>A | |
| ENST00000681296.1:n.2247+3542G>A | ||
| ENST00000681741.1:c.*1104+3542G>A | ENSP00000505116.1:n.*1104+3542G>A | |
| ENST00000681805.1:c.946-3260G>A | ||
| ENST00000681824.1:c.1187+3542G>A | ENSP00000505818.1:n.1187+3542G>A | |
| ENST00000319653.13:c.5060+3542G>A | ENSP00000318884.9:n.5060+3542G>A | |
| ENST00000545751.2:c.488+3542G>A | ENSP00000437918.2:n.488+3542G>A | |
| NM_001305424.1:c.5072+3542G>A | NP_001292353.1:n.5072+3542G>A | |
| NM_020066.4:c.5060+3542G>A | NP_064450.3:n.5060+3542G>A | |
| NM_001348094.1:c.2888+3542G>A | NP_001335023.1:n.2888+3542G>A | |
| XM_017001840.2:c.3200+3542G>A | XP_016857329.1:n.3200+3542G>A | |
| XM_017001841.2:c.3200+3542G>A | XP_016857330.1:n.3200+3542G>A | |
| NM_020066.5:c.5060+3542G>A MANE Select | NP_064450.3:n.5060+3542G>A | |
| NM_001305424.2:c.5072+3542G>A | NP_001292353.1:n.5072+3542G>A | |
| NM_001348094.2:c.2888+3542G>A | NP_001335023.1:n.2888+3542G>A |