Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.39506244A>T , CM000675.2:g.39506244A>T | GRCh38 |
| NC_000013.10:g.40080381A>T , CM000675.1:g.40080381A>T | GRCh37 |
| NC_000013.9:g.38978381A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005780.3:c.385+94588T>A MANE Select | NP_005771.1:n.385+94588T>A |
| ENST00000379589.4:c.385+94588T>A MANE Select | ENSP00000368908.3:n.385+94588T>A |
| NM_005780.2:c.385+94588T>A | NP_005771.1:n.385+94588T>A |
| ENST00000379589.3:c.385+94588T>A | ENSP00000368908.3:n.385+94588T>A |
| ENST00000648377.1:c.385+94588T>A | ENSP00000496801.1:n.385+94588T>A |
| XM_011534861.1:c.385+94588T>A | XP_011533163.1:n.385+94588T>A |
| XR_002957521.1:n.88+521A>T | |
| XR_941893.1:n.1694+521A>T |