Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14716728G>T , CM000667.2:g.14716728G>T | GRCh38 |
| NC_000005.9:g.14716837G>T , CM000667.1:g.14716837G>T | GRCh37 |
| NC_000005.8:g.14769837G>T | NCBI36 |
| NG_008273.1:g.160051C>A | |
| NG_008273.2:g.160058C>A | |
| NG_051625.1:g.60935G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.1119C>A MANE Select | ENSP00000284268.6:p.Ile373= | |
| ENST00000284268.6:c.1119C>A | ENSP00000284268.6:p.Ile373= | |
| ENST00000502585.1:n.361C>A | ||
| NM_054027.4:c.1119C>A | NP_473368.1:p.Ile373= | |
| NM_054027.5:c.1119C>A | NP_473368.1:p.Ile373= | |
| XM_017009644.2:c.1035C>A | XP_016865133.1:p.Ile345= | |
| NM_054027.6:c.1119C>A MANE Select | NP_473368.1:p.Ile373= |