Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008330T>C , CM000666.2:g.88008330T>C | GRCh38 |
| NC_000004.11:g.88929482T>C , CM000666.1:g.88929482T>C | GRCh37 |
| NC_000004.10:g.89148506T>C | NCBI36 |
| NG_008604.1:g.5663T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000297.4:c.595+2T>C MANE Select | NP_000288.1:n.595+2T>C |
| ENST00000237596.7:c.595+2T>C MANE Select | ENSP00000237596.2:n.595+2T>C |
| NM_000297.3:c.595+2T>C | NP_000288.1:n.595+2T>C |
| NR_156488.1:n.682+2T>C | |
| NR_156488.2:n.694+2T>C | |
| ENST00000237596.6:c.595+2T>C | ENSP00000237596.2:n.595+2T>C |
| ENST00000506727.1:n.97+2T>C | |
| XM_011532028.1:c.595+2T>C | XP_011530330.1:n.595+2T>C |
| XM_011532028.2:c.595+2T>C | XP_011530330.1:n.595+2T>C |
| XR_244632.2:n.690+2T>C |