Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887160T>G , CM000681.2:g.12887160T>G | GRCh38 |
| NC_000019.9:g.12997974T>G , CM000681.1:g.12997974T>G | GRCh37 |
| NC_000019.8:g.12858974T>G | NCBI36 |
| NG_009292.1:g.1001T>G | |
| NG_013087.1:g.5044A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.-20A>C MANE Select | ENSP00000264834.3:n.-20A>C | |
| ENST00000264834.4:c.-20A>C | ENSP00000264834.3:n.-20A>C | |
| NM_006563.3:c.-20A>C | NP_006554.1:n.-20A>C | |
| NM_006563.4:c.-20A>C | NP_006554.1:n.-20A>C | |
| NM_006563.5:c.-20A>C MANE Select | NP_006554.1:n.-20A>C |