Linked Data
dbSNP Id:
rs1408402976
gnomAD v2:
1-169524471-G-A
gnomAD v3:
1-169555233-G-A
gnomAD v4:
1-169555233-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169555233G>A , CM000663.2:g.169555233G>A | GRCh38 |
| NC_000001.10:g.169524471G>A , CM000663.1:g.169524471G>A | GRCh37 |
| NC_000001.9:g.167791095G>A | NCBI36 |
| NG_011806.1:g.36299C>T , LRG_553:g.36299C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.1067C>T MANE Select | ENSP00000356771.3:p.Ala356Val | |
| ENST00000367796.3:c.1067C>T | ENSP00000356770.3:p.Ala356Val | |
| ENST00000367797.7:c.1067C>T | ENSP00000356771.3:p.Ala356Val | |
| NM_000130.4:c.1067C>T , LRG_553t1:c.1067C>T | NP_000121.2:p.Ala356Val | |
| XM_017000660.2:c.656C>T | XP_016856149.1:p.Ala219Val | |
| NM_000130.5:c.1067C>T MANE Select | NP_000121.2:p.Ala356Val |