Linked Data
dbSNP Id:
rs576755609
ExAC:
1:155264434 G / A
gnomAD v2:
1-155264434-G-A
gnomAD v3:
1-155294643-G-A
gnomAD v4:
1-155294643-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155294643G>A , CM000663.2:g.155294643G>A | GRCh38 |
| NC_000001.10:g.155264434G>A , CM000663.1:g.155264434G>A | GRCh37 |
| NC_000001.9:g.153531058G>A | NCBI36 |
| NG_011677.1:g.11792C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.804C>T MANE Select | ENSP00000339933.4:p.Asp268= | |
| ENST00000342741.4:c.804C>T | ENSP00000339933.4:p.Asp268= | |
| ENST00000392414.7:c.711C>T | ENSP00000376214.3:p.Asp237= | |
| NM_000298.5:c.804C>T | NP_000289.1:p.Asp268= | |
| NM_181871.3:c.711C>T | NP_870986.1:p.Asp237= | |
| XM_005245266.3:c.963C>T | XP_005245323.1:p.Asp321= | |
| XM_006711386.2:c.612C>T | XP_006711449.1:p.Asp204= | |
| XM_011509639.1:c.963C>T | XP_011507941.1:p.Asp321= | |
| XM_011509640.1:c.612C>T | XP_011507942.1:p.Asp204= | |
| NM_000298.6:c.804C>T MANE Select | NP_000289.1:p.Asp268= | |
| XM_006711386.4:c.612C>T | XP_006711449.1:p.Asp204= | |
| XM_011509640.3:c.612C>T | XP_011507942.1:p.Asp204= | |
| XM_017001493.1:c.804C>T | XP_016856982.1:p.Asp268= | |
| NM_181871.4:c.711C>T | NP_870986.1:p.Asp237= |