Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28327745C>A , CM000675.2:g.28327745C>A | GRCh38 |
| NC_000013.10:g.28901882C>A , CM000675.1:g.28901882C>A | GRCh37 |
| NC_000013.9:g.27799882C>A | NCBI36 |
| NG_012003.1:g.172384G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002019.4:c.2708-195G>T MANE Select | NP_002010.2:n.2708-195G>T |
| ENST00000282397.9:c.2708-195G>T MANE Select | ENSP00000282397.4:n.2708-195G>T |
| ENST00000282397.8:c.2708-195G>T | ENSP00000282397.4:n.2708-195G>T |
| ENST00000540678.2:c.-1052-195G>T | ENSP00000443311.2:n.-1052-195G>T |
| ENST00000615611.4:c.-8-195G>T | ENSP00000484385.1:n.-8-195G>T |
| ENST00000706527.1:n.533-195G>T | |
| XM_017020485.1:c.2594-195G>T | XP_016875974.1:n.2594-195G>T |
| XR_941798.1:n.918-876C>A |