Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150298341C>T , CM000667.2:g.150298341C>T | GRCh38 |
| NC_000005.9:g.149677904C>T , CM000667.1:g.149677904C>T | GRCh37 |
| NC_000005.8:g.149658097C>T | NCBI36 |
| NG_051250.1:g.9622G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328668.8:c.583G>A MANE Select | ENSP00000333395.7:p.Glu195Lys | |
| ENST00000328668.7:c.583G>A | ENSP00000333395.7:p.Glu195Lys | |
| ENST00000509146.1:c.154G>A | ENSP00000420955.1:p.Glu52Lys | |
| ENST00000515301.2:c.154G>A | ENSP00000426879.2:p.Glu52Lys | |
| NM_001012301.2:c.583G>A | NP_001012301.1:p.Glu195Lys | |
| NM_001012301.3:c.583G>A | NP_001012301.1:p.Glu195Lys | |
| NM_001012301.4:c.583G>A MANE Select | NP_001012301.1:p.Glu195Lys |