Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177353596C>A , CM000666.2:g.177353596C>A | GRCh38 |
| NC_000004.11:g.178274750C>A , CM000666.1:g.178274750C>A | GRCh37 |
| NC_000004.10:g.178511744C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018248.3:c.1328C>A MANE Select | NP_060718.3:p.Pro443Gln |
| ENST00000264596.4:c.1328C>A MANE Select | ENSP00000264596.3:p.Pro443Gln |
| NM_018248.2:c.1328C>A | NP_060718.2:p.Pro443Gln |
| ENST00000264596.3:c.1328C>A | ENSP00000264596.3:p.Pro443Gln |
| ENST00000513321.1:c.*602C>A | ENSP00000424735.1:n.*602C>A |
| XM_017008360.1:c.1328C>A | XP_016863849.1:p.Pro443Gln |
| XR_001741926.1:n.360+3399G>T | |
| XR_939503.1:n.445+3399G>T | |
| XR_939504.1:n.556+3399G>T | |
| XR_939505.1:n.335+3399G>T | |
| XR_939506.1:n.216+3399G>T |