Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6019698C>T , CM000674.2:g.6019698C>T | GRCh38 |
| NC_000012.11:g.6128864C>T , CM000674.1:g.6128864C>T | GRCh37 |
| NC_000012.10:g.5999125C>T | NCBI36 |
| NG_009072.1:g.109973G>A | |
| NG_009072.2:g.109973G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3720G>A MANE Select | ENSP00000261405.5:p.Pro1240= | |
| ENST00000261405.9:c.3720G>A | ENSP00000261405.5:p.Pro1240= | |
| ENST00000538635.5:n.421-25764G>A | ||
| ENST00000539641.1:n.518G>A | ||
| NM_000552.3:c.3720G>A | NP_000543.2:p.Pro1240= | |
| NM_000552.4:c.3720G>A | NP_000543.2:p.Pro1240= | |
| NM_000552.5:c.3720G>A MANE Select | NP_000543.3:p.Pro1240= |