Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533939T>C , CM000681.2:g.7533939T>C | GRCh38 |
| NC_000019.9:g.7598825T>C , CM000681.1:g.7598825T>C | GRCh37 |
| NC_000019.8:g.7504825T>C | NCBI36 |
| NG_013374.1:g.4788T>C | |
| NG_015806.1:g.16330T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*144T>C MANE Select | ENSP00000264079.5:n.*144T>C | |
| ENST00000264079.10:c.*144T>C | ENSP00000264079.5:n.*144T>C | |
| ENST00000394321.9:n.2202T>C | ||
| ENST00000599334.1:c.615T>C | ||
| ENST00000601870.1:c.169+71T>C | ||
| ENST00000602227.1:n.441T>C | ||
| NM_020533.2:c.*144T>C | NP_065394.1:n.*144T>C | |
| NM_020533.3:c.*144T>C MANE Select | NP_065394.1:n.*144T>C |