MyVariant.info:
GRCh37
chr12:g.109998858G>T
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109561053G>T , CM000674.2:g.109561053G>T | GRCh38 |
| NC_000012.11:g.109998858G>T , CM000674.1:g.109998858G>T | GRCh37 |
| NC_000012.10:g.108483241G>T | NCBI36 |
| NG_007096.1:g.17445C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.571C>A MANE Select | ENSP00000445920.1:p.Arg191= | |
| ENST00000537496.5:c.*136C>A | ENSP00000444793.1:n.*136C>A | |
| ENST00000540016.5:c.415C>A | ENSP00000474582.1:p.Arg139= | |
| ENST00000541763.6:c.796C>A | ENSP00000474981.1:n.796C>A | |
| ENST00000544051.5:c.*452C>A | ENSP00000438079.1:n.*452C>A | |
| ENST00000545712.6:c.571C>A | ENSP00000445920.1:p.Arg191= | |
| NM_052845.3:c.571C>A | NP_443077.1:p.Arg191= | |
| NR_038118.1:n.731C>A | ||
| XM_011538266.1:c.416C>A | XP_011536568.1:p.Pro139Gln | |
| XM_011538267.1:c.416C>A | XP_011536569.1:p.Pro139Gln | |
| XM_011538268.1:c.298C>A | XP_011536570.1:p.Arg100= | |
| XM_011538269.1:c.295C>A | XP_011536571.1:p.Arg99= | |
| XM_011538267.3:c.416C>A | XP_011536569.1:p.Pro139Gln | |
| XM_011538268.2:c.298C>A | XP_011536570.1:p.Arg100= | |
| XM_011538269.2:c.295C>A | XP_011536571.1:p.Arg99= | |
| XM_024448961.1:c.571C>A | XP_024304729.1:p.Arg191= | |
| NM_052845.4:c.571C>A MANE Select | NP_443077.1:p.Arg191= | |
| NR_038118.2:n.682C>A |