Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.177617230T>C , CM000664.2:g.177617230T>C | GRCh38 |
| NC_000002.11:g.178481958T>C , CM000664.1:g.178481958T>C | GRCh37 |
| NC_000002.10:g.178190204T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152275.4:c.1472A>G MANE Select | NP_689488.3:p.Asp491Gly |
| ENST00000355689.6:c.1472A>G MANE Select | ENSP00000347915.4:p.Asp491Gly |
| NM_152275.3:c.1472A>G | NP_689488.3:p.Asp491Gly |
| ENST00000355689.5:c.1472A>G | ENSP00000347915.4:p.Asp491Gly |