Linked Data
dbSNP Id:
rs1501550
gnomAD v2:
1-211168759-G-A
gnomAD v3:
1-210995417-G-A
gnomAD v4:
1-210995417-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.210995417G>A , CM000663.2:g.210995417G>A | GRCh38 |
| NC_000001.10:g.211168759G>A , CM000663.1:g.211168759G>A | GRCh37 |
| NC_000001.9:g.209235382G>A | NCBI36 |
| NG_029777.1:g.143699C>T | |
| NG_029777.2:g.143699C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271751.10:c.1032+23366C>T MANE Select | ENSP00000271751.4:n.1032+23366C>T | |
| ENST00000367007.5:c.951+23447C>T | ENSP00000355974.5:n.951+23447C>T | |
| ENST00000638357.1:c.365+23447C>T | ||
| ENST00000638498.1:c.1032+23366C>T | ENSP00000490983.1:n.1032+23366C>T | |
| ENST00000638960.1:c.951+23447C>T | ENSP00000492302.1:n.951+23447C>T | |
| ENST00000638983.1:c.951+23447C>T | ENSP00000492641.1:n.951+23447C>T | |
| ENST00000639385.1:n.408+23366C>T | ||
| ENST00000639602.1:c.822+23447C>T | ENSP00000492303.1:n.822+23447C>T | |
| ENST00000639754.1:n.1235+23366C>T | ||
| ENST00000639952.1:c.951+23447C>T | ENSP00000492697.1:n.951+23447C>T | |
| ENST00000640044.1:c.310+108079C>T | ENSP00000491434.1:n.310+108079C>T | |
| ENST00000640243.1:c.951+23447C>T | ENSP00000492803.1:n.951+23447C>T | |
| ENST00000640522.1:c.1032+23366C>T | ENSP00000491019.1:n.1032+23366C>T | |
| ENST00000640528.1:c.951+23447C>T | ENSP00000491725.1:n.951+23447C>T | |
| ENST00000640566.1:c.310+108079C>T | ENSP00000491302.1:n.310+108079C>T | |
| ENST00000640710.1:c.951+23447C>T | ENSP00000492513.1:n.951+23447C>T | |
| ENST00000640890.1:n.1053+23447C>T | ||
| ENST00000271751.8:c.1032+23366C>T | ENSP00000271751.4:n.1032+23366C>T | |
| ENST00000367007.4:c.951+23447C>T | ENSP00000355974.4:n.951+23447C>T | |
| NM_002238.3:c.951+23447C>T | NP_002229.1:n.951+23447C>T | |
| NM_172362.2:c.1032+23366C>T | NP_758872.1:n.1032+23366C>T | |
| NM_172362.3:c.1032+23366C>T MANE Select | NP_758872.1:n.1032+23366C>T | |
| NM_002238.4:c.951+23447C>T | NP_002229.1:n.951+23447C>T |