Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.161416850C>G , CM000664.2:g.161416850C>G | GRCh38 |
| NC_000002.11:g.162273361C>G , CM000664.1:g.162273361C>G | GRCh37 |
| NC_000002.10:g.161981607C>G | NCBI36 |
| NG_046904.1:g.5742C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006593.4:c.440C>G MANE Select | NP_006584.1:p.Ala147Gly |
| ENST00000389554.8:c.440C>G MANE Select | ENSP00000374205.3:p.Ala147Gly |
| NM_006593.2:c.440C>G | NP_006584.1:p.Ala147Gly |
| NM_006593.3:c.440C>G | NP_006584.1:p.Ala147Gly |
| ENST00000389554.7:c.440C>G | ENSP00000374205.3:p.Ala147Gly |
| ENST00000463544.1:n.520C>G |