Linked Data
dbSNP Id:
rs759436378
ExAC:
11:119548325 C / A
gnomAD v2:
11-119548325-C-A
gnomAD v4:
11-119677615-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119677615C>A , CM000673.2:g.119677615C>A | GRCh38 |
| NC_000011.9:g.119548325C>A , CM000673.1:g.119548325C>A | GRCh37 |
| NC_000011.8:g.119053535C>A | NCBI36 |
| NG_013083.1:g.56111G>T | |
| NG_013083.2:g.56111G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531468.2:c.673G>T | ENSP00000513010.1:p.Ala225Ser | |
| ENST00000264025.8:c.673G>T MANE Select | ENSP00000264025.3:p.Ala225Ser | |
| ENST00000264025.7:c.673G>T | ENSP00000264025.3:p.Ala225Ser | |
| ENST00000340882.2:c.673G>T | ENSP00000345289.2:p.Ala225Ser | |
| ENST00000341398.6:c.673G>T | ENSP00000344974.2:p.Ala225Ser | |
| ENST00000524510.1:n.647G>T | ||
| NM_002855.4:c.673G>T | NP_002846.3:p.Ala225Ser | |
| NM_203285.1:c.673G>T | NP_976030.1:p.Ala225Ser | |
| NM_203286.1:c.673G>T | NP_976031.1:p.Ala225Ser | |
| NM_002855.5:c.673G>T MANE Select | NP_002846.3:p.Ala225Ser | |
| NM_203285.2:c.673G>T | NP_976030.1:p.Ala225Ser | |
| NM_203286.2:c.673G>T | NP_976031.1:p.Ala225Ser |