Linked Data
dbSNP Id:
rs903253701
gnomAD v2:
1-240541182-A-G
gnomAD v3:
1-240377882-A-G
gnomAD v4:
1-240377882-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.240377882A>G , CM000663.2:g.240377882A>G | GRCh38 |
| NC_000001.10:g.240541182A>G , CM000663.1:g.240541182A>G | GRCh37 |
| NC_000001.9:g.238607805A>G | NCBI36 |
| NG_042054.1:g.290998A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319653.14:c.4859-14629A>G MANE Select | ENSP00000318884.9:n.4859-14629A>G | |
| ENST00000545751.3:c.700-14629A>G | ||
| ENST00000679390.1:n.1121-14629A>G | ||
| ENST00000679646.1:n.4325-14629A>G | ||
| ENST00000679980.1:c.1128-14629A>G | ||
| ENST00000681131.1:c.859-14629A>G | ||
| ENST00000681210.1:c.1079-14629A>G | ENSP00000505131.1:n.1079-14629A>G | |
| ENST00000681296.1:n.2046-14629A>G | ||
| ENST00000681741.1:c.*903-14629A>G | ENSP00000505116.1:n.*903-14629A>G | |
| ENST00000681805.1:c.744-14629A>G | ||
| ENST00000681824.1:c.986-14629A>G | ENSP00000505818.1:n.986-14629A>G | |
| ENST00000319653.13:c.4859-14629A>G | ENSP00000318884.9:n.4859-14629A>G | |
| ENST00000545751.2:c.287-14629A>G | ENSP00000437918.2:n.287-14629A>G | |
| NM_001305424.1:c.4871-14629A>G | NP_001292353.1:n.4871-14629A>G | |
| NM_020066.4:c.4859-14629A>G | NP_064450.3:n.4859-14629A>G | |
| NM_001348094.1:c.2687-14629A>G | NP_001335023.1:n.2687-14629A>G | |
| XM_017001840.2:c.2999-14629A>G | XP_016857329.1:n.2999-14629A>G | |
| XM_017001841.2:c.2999-14629A>G | XP_016857330.1:n.2999-14629A>G | |
| NM_020066.5:c.4859-14629A>G MANE Select | NP_064450.3:n.4859-14629A>G | |
| NM_001305424.2:c.4871-14629A>G | NP_001292353.1:n.4871-14629A>G | |
| NM_001348094.2:c.2687-14629A>G | NP_001335023.1:n.2687-14629A>G |