Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2274792G>T , CM000681.2:g.2274792G>T | GRCh38 |
| NC_000019.9:g.2274791G>T , CM000681.1:g.2274791G>T | GRCh37 |
| NC_000019.8:g.2225791G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342063.5:c.*888C>A MANE Select | ENSP00000345102.3:n.*888C>A | |
| ENST00000342063.4:c.*888C>A | ENSP00000345102.3:n.*888C>A | |
| ENST00000621615.1:c.146+5048G>T | ENSP00000481965.1:n.146+5048G>T | |
| NM_198532.2:c.*888C>A | NP_940934.1:n.*888C>A | |
| NM_198532.3:c.*888C>A MANE Select | NP_940934.1:n.*888C>A |