Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.94303661T>G , CM000666.2:g.94303661T>G | GRCh38 |
| NC_000004.11:g.95224812T>G , CM000666.1:g.95224812T>G | GRCh37 |
| NC_000004.10:g.95443835T>G | NCBI36 |
| NG_032150.1:g.44216A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014485.3:c.337-1417A>C MANE Select | NP_055300.1:n.337-1417A>C |
| ENST00000295256.10:c.337-1417A>C MANE Select | ENSP00000295256.5:n.337-1417A>C |
| NM_014485.2:c.337-1417A>C | NP_055300.1:n.337-1417A>C |
| ENST00000295256.9:c.337-1417A>C | ENSP00000295256.5:n.337-1417A>C |
| XM_005262932.1:c.244-1417A>C | XP_005262989.1:n.244-1417A>C |
| XM_005262932.3:c.244-1417A>C | XP_005262989.1:n.244-1417A>C |