Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10972770C>G , CM000663.2:g.10972770C>G | GRCh38 |
| NC_000001.10:g.11032827C>G , CM000663.1:g.11032827C>G | GRCh37 |
| NC_000001.9:g.10955414C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001170754.2:c.128-2681G>C MANE Select | NP_001164225.1:n.128-2681G>C |
| ENST00000377004.9:c.128-2681G>C MANE Select | ENSP00000366203.4:n.128-2681G>C |
| NM_001170754.1:c.128-2681G>C | NP_001164225.1:n.128-2681G>C |
| ENST00000377004.8:c.128-2681G>C | ENSP00000366203.4:n.128-2681G>C |
| ENST00000520253.1:c.61-2681G>C |