Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.43715246C>G , CM000682.2:g.43715246C>G | GRCh38 |
| NC_000020.10:g.42343886C>G , CM000682.1:g.42343886C>G | GRCh37 |
| NC_000020.9:g.41777300C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002466.4:c.1937C>G MANE Select | NP_002457.1:p.Ala646Gly |
| ENST00000217026.5:c.1937C>G MANE Select | ENSP00000217026.4:p.Ala646Gly |
| NM_001278610.1:c.1865C>G | NP_001265539.1:p.Ala622Gly |
| NM_001278610.2:c.1865C>G | NP_001265539.1:p.Ala622Gly |
| NM_002466.3:c.1937C>G | NP_002457.1:p.Ala646Gly |
| ENST00000217026.4:c.1937C>G | ENSP00000217026.4:p.Ala646Gly |
| ENST00000396863.8:c.1865C>G | ENSP00000380072.4:p.Ala622Gly |