Linked Data
dbSNP Id:
rs747111492
ExAC:
12:109994917 T / C
gnomAD v2:
12-109994917-T-C
gnomAD v4:
12-109557112-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109557112T>C , CM000674.2:g.109557112T>C | GRCh38 |
| NC_000012.11:g.109994917T>C , CM000674.1:g.109994917T>C | GRCh37 |
| NC_000012.10:g.108479300T>C | NCBI36 |
| NG_007096.1:g.21386A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.669A>G MANE Select | ENSP00000445920.1:p.Leu223= | |
| ENST00000537496.5:c.*234A>G | ENSP00000444793.1:n.*234A>G | |
| ENST00000540016.5:c.513A>G | ENSP00000474582.1:p.Leu171= | |
| ENST00000541763.6:c.894A>G | ENSP00000474981.1:n.894A>G | |
| ENST00000544051.5:c.*550A>G | ENSP00000438079.1:n.*550A>G | |
| ENST00000545712.6:c.669A>G | ENSP00000445920.1:p.Leu223= | |
| NM_052845.3:c.669A>G | NP_443077.1:p.Leu223= | |
| NR_038118.1:n.829A>G | ||
| XM_011538266.1:c.*16A>G | XP_011536568.1:n.*16A>G | |
| XM_011538267.1:c.*16A>G | XP_011536569.1:n.*16A>G | |
| XM_011538268.1:c.396A>G | XP_011536570.1:p.Leu132= | |
| XM_011538269.1:c.393A>G | XP_011536571.1:p.Leu131= | |
| XM_011538267.3:c.*16A>G | XP_011536569.1:n.*16A>G | |
| XM_011538268.2:c.396A>G | XP_011536570.1:p.Leu132= | |
| XM_011538269.2:c.393A>G | XP_011536571.1:p.Leu131= | |
| NM_052845.4:c.669A>G MANE Select | NP_443077.1:p.Leu223= | |
| NR_038118.2:n.780A>G |