Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533991T>C , CM000681.2:g.7533991T>C | GRCh38 |
| NC_000019.9:g.7598877T>C , CM000681.1:g.7598877T>C | GRCh37 |
| NC_000019.8:g.7504877T>C | NCBI36 |
| NG_013374.1:g.4840T>C | |
| NG_015806.1:g.16382T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*196T>C MANE Select | ENSP00000264079.5:n.*196T>C | |
| ENST00000264079.10:c.*196T>C | ENSP00000264079.5:n.*196T>C | |
| ENST00000601870.1:c.169+123T>C | ||
| NM_020533.2:c.*196T>C | NP_065394.1:n.*196T>C | |
| NM_020533.3:c.*196T>C MANE Select | NP_065394.1:n.*196T>C |