Linked Data
dbSNP Id:
rs545257884
gnomAD v2:
11-17574708-C-T
gnomAD v3:
11-17553161-C-T
gnomAD v4:
11-17553161-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553161C>T , CM000673.2:g.17553161C>T | GRCh38 |
| NC_000011.9:g.17574708C>T , CM000673.1:g.17574708C>T | GRCh37 |
| NC_000011.8:g.17531284C>T | NCBI36 |
| NG_033191.1:g.10789C>T | |
| NG_033191.2:g.10789C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.371C>T | ENSP00000382323.2:p.Ala124Val | |
| ENST00000399397.6:c.335C>T MANE Select | ENSP00000382329.2:p.Ala112Val | |
| ENST00000399391.6:c.371C>T | ENSP00000382323.2:p.Ala124Val | |
| ENST00000399397.5:c.335C>T | ENSP00000382329.2:p.Ala112Val | |
| ENST00000428619.1:c.152C>T | ENSP00000399057.2:p.Ala51Val | |
| ENST00000498332.5:n.241C>T | ||
| NM_001277269.1:c.371C>T | NP_001264198.1:p.Ala124Val | |
| NM_001292063.1:c.335C>T | NP_001278992.1:p.Ala112Val | |
| NM_001277269.2:c.371C>T | NP_001264198.1:p.Ala124Val | |
| NM_001292063.2:c.335C>T MANE Select | NP_001278992.1:p.Ala112Val |