Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123377900T>C , CM000668.2:g.123377900T>C | GRCh38 |
| NC_000006.11:g.123699045T>C , CM000668.1:g.123699045T>C | GRCh37 |
| NC_000006.10:g.123740744T>C | NCBI36 |
| NG_030438.1:g.264194A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006073.4:c.1187-2A>G MANE Select | NP_006064.2:n.1187-2A>G |
| ENST00000334268.9:c.1187-2A>G MANE Select | ENSP00000333984.5:n.1187-2A>G |
| NM_001251987.1:c.1190-2A>G | NP_001238916.1:n.1190-2A>G |
| NM_001251987.2:c.1190-2A>G | NP_001238916.1:n.1190-2A>G |
| NM_006073.3:c.1187-2A>G | NP_006064.2:n.1187-2A>G |
| ENST00000334268.8:c.1187-2A>G | ENSP00000333984.5:n.1187-2A>G |
| ENST00000662930.1:c.1190-2A>G | ENSP00000499585.1:n.1190-2A>G |
| XM_011535382.1:c.1184-2A>G | XP_011533684.1:n.1184-2A>G |