Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.151251027G>C , CM000664.2:g.151251027G>C | GRCh38 |
| NC_000002.11:g.152107541G>C , CM000664.1:g.152107541G>C | GRCh37 |
| NC_000002.10:g.151815787G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331426.6:c.953C>G MANE Select | ENSP00000331211.5:p.Ser318Trp | |
| ENST00000331426.5:c.953C>G | ENSP00000331211.5:p.Ser318Trp | |
| NM_198557.2:c.953C>G | NP_940959.1:p.Ser318Trp | |
| XM_011511146.1:c.962C>G | XP_011509448.1:p.Ser321Trp | |
| NM_198557.3:c.953C>G MANE Select | NP_940959.1:p.Ser318Trp |