Linked Data
ClinVar Variation Id:
2200545
dbSNP Id:
rs762138026
ExAC:
12:109994855 G / A
gnomAD v2:
12-109994855-G-A
gnomAD v3:
12-109557050-G-A
gnomAD v4:
12-109557050-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109557050G>A , CM000674.2:g.109557050G>A | GRCh38 |
| NC_000012.11:g.109994855G>A , CM000674.1:g.109994855G>A | GRCh37 |
| NC_000012.10:g.108479238G>A | NCBI36 |
| NG_007096.1:g.21448C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.731C>T MANE Select | ENSP00000445920.1:p.Ser244Leu | |
| ENST00000537496.5:c.*296C>T | ENSP00000444793.1:n.*296C>T | |
| ENST00000540016.5:c.575C>T | ENSP00000474582.1:p.Ser192Leu | |
| ENST00000541763.6:c.956C>T | ENSP00000474981.1:n.956C>T | |
| ENST00000544051.5:c.*612C>T | ENSP00000438079.1:n.*612C>T | |
| ENST00000545712.6:c.731C>T | ENSP00000445920.1:p.Ser244Leu | |
| NM_052845.3:c.731C>T | NP_443077.1:p.Ser244Leu | |
| NR_038118.1:n.891C>T | ||
| XM_011538266.1:c.*78C>T | XP_011536568.1:n.*78C>T | |
| XM_011538267.1:c.*78C>T | XP_011536569.1:n.*78C>T | |
| XM_011538268.1:c.458C>T | XP_011536570.1:p.Ser153Leu | |
| XM_011538269.1:c.455C>T | XP_011536571.1:p.Ser152Leu | |
| XM_011538267.3:c.*78C>T | XP_011536569.1:n.*78C>T | |
| XM_011538268.2:c.458C>T | XP_011536570.1:p.Ser153Leu | |
| XM_011538269.2:c.455C>T | XP_011536571.1:p.Ser152Leu | |
| NM_052845.4:c.731C>T MANE Select | NP_443077.1:p.Ser244Leu | |
| NR_038118.2:n.842C>T |