Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.5851790A>C , CM000681.2:g.5851790A>C | GRCh38 |
| NC_000019.9:g.5851801A>C , CM000681.1:g.5851801A>C | GRCh37 |
| NC_000019.8:g.5802801A>C | NCBI36 |
| NG_007482.1:g.4685T>G | |
| NG_007482.2:g.10333T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001382748.1:c.-205-5172T>G | NP_001369677.1:n.-205-5172T>G |
| NM_001382749.1:c.-140-5237T>G | NP_001369678.1:n.-140-5237T>G |
| NM_001382750.1:c.-151-5226T>G | NP_001369679.1:n.-151-5226T>G |
| NR_110740.1:n.303-714A>C |