Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87612189G>C , CM000666.2:g.87612189G>C | GRCh38 |
| NC_000004.11:g.88533341G>C , CM000666.1:g.88533341G>C | GRCh37 |
| NC_000004.10:g.88752365G>C | NCBI36 |
| NG_011595.1:g.8661G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014208.3:c.135+1G>C MANE Select | NP_055023.2:n.135+1G>C |
| ENST00000651931.1:c.135+1G>C MANE Select | ENSP00000498766.1:n.135+1G>C |
| ENST00000282478.7:c.135+1G>C | ENSP00000282478.7:n.135+1G>C |
| ENST00000399271.5:c.135+1G>C | ENSP00000382213.1:n.135+1G>C |