Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151054979T>G , CM000669.2:g.151054979T>G | GRCh38 |
| NC_000007.13:g.150752066T>G , CM000669.1:g.150752066T>G | GRCh37 |
| NC_000007.12:g.150382999T>G | NCBI36 |
| NG_042167.1:g.7987A>C | |
| NG_051947.1:g.1780T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004935.4:c.650+48A>C MANE Select | NP_004926.1:n.650+48A>C |
| ENST00000485972.6:c.650+48A>C MANE Select | ENSP00000419782.1:n.650+48A>C |
| NM_001164410.2:c.554+48A>C | NP_001157882.1:n.554+48A>C |
| NM_001164410.3:c.554+48A>C | NP_001157882.1:n.554+48A>C |
| NM_004935.3:c.650+48A>C | NP_004926.1:n.650+48A>C |
| ENST00000297518.4:c.554+48A>C | ENSP00000297518.4:n.554+48A>C |
| ENST00000485972.5:c.650+48A>C | ENSP00000419782.1:n.650+48A>C |