Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232539803G>T , CM000664.2:g.232539803G>T | GRCh38 |
| NC_000002.11:g.233404513G>T , CM000664.1:g.233404513G>T | GRCh37 |
| NC_000002.10:g.233112757G>T | NCBI36 |
| NG_012954.1:g.5077G>T | |
| NG_012954.2:g.5112G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005199.5:c.55+1G>T MANE Select | NP_005190.4:n.55+1G>T |
| ENST00000651502.1:c.55+1G>T MANE Select | ENSP00000498757.1:n.55+1G>T |
| NM_005199.4:c.55+1G>T | NP_005190.4:n.55+1G>T |
| ENST00000389492.3:c.55+1G>T | ENSP00000374143.3:n.55+1G>T |
| ENST00000389494.7:c.55+1G>T | ENSP00000374145.3:n.55+1G>T |
| ENST00000485094.1:n.76+1G>T |