Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149960822G>C , CM000667.2:g.149960822G>C | GRCh38 |
| NC_000005.9:g.149340385G>C , CM000667.1:g.149340385G>C | GRCh37 |
| NC_000005.8:g.149320578G>C | NCBI36 |
| NG_007147.2:g.1940G>C , LRG_684:g.1940G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000112.4:c.-183G>C MANE Select | NP_000103.2:n.-183G>C |
| ENST00000286298.5:c.-183G>C MANE Select | ENSP00000286298.4:n.-183G>C |
| NM_000112.3:c.-183G>C , LRG_684t1:c.-183G>C | NP_000103.2:n.-183G>C |
| ENST00000286298.4:c.-183G>C | ENSP00000286298.4:n.-183G>C |
| ENST00000433184.1:c.-463G>C | ENSP00000405496.1:n.-463G>C |
| ENST00000690410.1:n.50G>C | |
| XM_017009191.2:c.-183G>C | XP_016864680.1:n.-183G>C |