Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88019572G>C , CM000666.2:g.88019572G>C | GRCh38 |
| NC_000004.11:g.88940724G>C , CM000666.1:g.88940724G>C | GRCh37 |
| NC_000004.10:g.89159748G>C | NCBI36 |
| NG_008604.1:g.16905G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.709+1G>C MANE Select | ENSP00000237596.2:n.709+1G>C | |
| ENST00000237596.6:c.709+1G>C | ENSP00000237596.2:n.709+1G>C | |
| ENST00000506727.1:n.211+1G>C | ||
| NM_000297.3:c.709+1G>C | NP_000288.1:n.709+1G>C | |
| XM_011532028.1:c.709+1G>C | XP_011530330.1:n.709+1G>C | |
| XM_011532029.1:c.-68+1G>C | XP_011530331.1:n.-68+1G>C | |
| XR_244632.2:n.804+1G>C | ||
| NR_156488.1:n.796+1G>C | ||
| XM_011532028.2:c.709+1G>C | XP_011530330.1:n.709+1G>C | |
| NM_000297.4:c.709+1G>C MANE Select | NP_000288.1:n.709+1G>C | |
| NR_156488.2:n.808+1G>C |