Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88007652G>C , CM000666.2:g.88007652G>C | GRCh38 |
| NC_000004.11:g.88928804G>C , CM000666.1:g.88928804G>C | GRCh37 |
| NC_000004.10:g.89147828G>C | NCBI36 |
| NG_008604.1:g.4985G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000297.4:c.-82G>C MANE Select | NP_000288.1:n.-82G>C |
| ENST00000237596.7:c.-82G>C MANE Select | ENSP00000237596.2:n.-82G>C |
| NM_000297.3:c.-82G>C | NP_000288.1:n.-82G>C |
| NR_156488.1:n.6G>C | |
| NR_156488.2:n.18G>C | |
| XM_011532028.1:c.-82G>C | XP_011530330.1:n.-82G>C |
| XR_244632.2:n.14G>C |