Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49130864T>C , CM000665.2:g.49130864T>C | GRCh38 |
| NC_000003.11:g.49168297T>C , CM000665.1:g.49168297T>C | GRCh37 |
| NC_000003.10:g.49143301T>C | NCBI36 |
| NG_008094.1:g.7303A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002292.4:c.916-4A>G MANE Select | NP_002283.3:n.916-4A>G |
| ENST00000305544.9:c.916-4A>G MANE Select | ENSP00000307156.4:n.916-4A>G |
| NM_002292.3:c.916-4A>G | NP_002283.3:n.916-4A>G |
| ENST00000305544.8:c.916-4A>G | ENSP00000307156.4:n.916-4A>G |
| ENST00000418109.5:c.916-4A>G | ENSP00000388325.1:n.916-4A>G |
| XM_005265127.3:c.916-4A>G | XP_005265184.1:n.916-4A>G |
| XM_005265127.4:c.916-4A>G | XP_005265184.1:n.916-4A>G |