Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149923732G>C , CM000663.2:g.149923732G>C | GRCh38 |
| NC_000001.10:g.149895624G>C , CM000663.1:g.149895624G>C | GRCh37 |
| NC_000001.9:g.148162248G>C | NCBI36 |
| NG_032777.1:g.9521C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000271628.9:c.1088-3C>G MANE Select | ENSP00000271628.8:n.1088-3C>G | |
| ENST00000271628.8:c.1088-3C>G | ENSP00000271628.8:n.1088-3C>G | |
| NM_005850.4:c.1088-3C>G | NP_005841.1:n.1088-3C>G | |
| NM_005850.5:c.1088-3C>G MANE Select | NP_005841.1:n.1088-3C>G |