Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.57909321T>C , CM000685.2:g.57909321T>C | GRCh38 |
| NC_000023.10:g.57935755T>C , CM000685.1:g.57935755T>C | GRCh37 |
| NC_000023.9:g.57952480T>C | NCBI36 |
| NG_015974.1:g.6313A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007156.5:c.1100A>G MANE Select | NP_009087.1:p.Glu367Gly |
| ENST00000358697.6:c.1100A>G MANE Select | ENSP00000351530.4:p.Glu367Gly |
| NM_007156.4:c.1100A>G | NP_009087.1:p.Glu367Gly |
| ENST00000358697.5:c.1100A>G | ENSP00000351530.4:p.Glu367Gly |