Linked Data
dbSNP Id:
rs1454418442
gnomAD v2:
22-20780191-G-A
gnomAD v3:
22-20425904-G-A
gnomAD v4:
22-20425904-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20425904G>A , CM000684.2:g.20425904G>A | GRCh38 |
| NC_000022.10:g.20780191G>A , CM000684.1:g.20780191G>A | GRCh37 |
| NC_000022.9:g.19110191G>A | NCBI36 |
| NG_031868.2:g.16956C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622235.5:c.2072C>T MANE Select | ENSP00000477564.2:p.Ala691Val | |
| ENST00000615031.4:c.2087C>T | ENSP00000479389.1:p.Ala696Val | |
| ENST00000622235.4:c.2072C>T | ENSP00000477564.1:p.Ala691Val | |
| ENST00000623402.1:c.2087C>T | ENSP00000485276.1:p.Ala696Val | |
| NM_153334.6:c.2087C>T | NP_699165.3:p.Ala696Val | |
| NM_182895.4:c.2072C>T | NP_878315.2:p.Ala691Val | |
| NM_153334.7:c.2087C>T | NP_699165.3:p.Ala696Val | |
| NM_182895.5:c.2072C>T MANE Select | NP_878315.2:p.Ala691Val |