Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.41475673T>C , CM000667.2:g.41475673T>C | GRCh38 |
| NC_000005.9:g.41475775T>C , CM000667.1:g.41475775T>C | GRCh37 |
| NC_000005.8:g.41511532T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377801.8:c.103+34751A>G MANE Select | ENSP00000367032.3:n.103+34751A>G | |
| ENST00000328457.5:c.103+34751A>G | ENSP00000333751.3:n.103+34751A>G | |
| ENST00000377801.7:c.103+34751A>G | ENSP00000367032.3:n.103+34751A>G | |
| NM_001005473.2:c.103+34751A>G | NP_001005473.1:n.103+34751A>G | |
| NM_001005473.3:c.103+34751A>G MANE Select | NP_001005473.1:n.103+34751A>G |