Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.57047024C>G , CM000666.2:g.57047024C>G | GRCh38 |
| NC_000004.11:g.57913190C>G , CM000666.1:g.57913190C>G | GRCh37 |
| NC_000004.10:g.57607947C>G | NCBI36 |
| NG_031877.1:g.68362G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295666.6:c.476-6091G>C MANE Select | ENSP00000295666.4:n.476-6091G>C | |
| ENST00000512512.3:n.116-6091G>C | ||
| ENST00000514062.2:c.476-6091G>C | ENSP00000486293.1:n.476-6091G>C | |
| NM_001253835.1:c.476-6091G>C | NP_001240764.1:n.476-6091G>C | |
| NM_001553.2:c.476-6091G>C | NP_001544.1:n.476-6091G>C | |
| NM_001553.3:c.476-6091G>C MANE Select | NP_001544.1:n.476-6091G>C | |
| NM_001253835.2:c.476-6091G>C | NP_001240764.1:n.476-6091G>C |