Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52186425A>C , CM000668.2:g.52186425A>C | GRCh38 |
| NC_000006.11:g.52051223A>C , CM000668.1:g.52051223A>C | GRCh37 |
| NC_000006.10:g.52159182A>C | NCBI36 |
| NG_033021.1:g.5039A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648244.1:c.-7A>C MANE Select | ENSP00000497968.1:n.-7A>C | |
| ENST00000340057.1:c.-7A>C | ENSP00000344192.1:n.-7A>C | |
| NM_002190.2:c.-7A>C | NP_002181.1:n.-7A>C | |
| NM_002190.3:c.-7A>C MANE Select | NP_002181.1:n.-7A>C |