Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101215955C>T , CM000669.2:g.101215955C>T | GRCh38 |
| NC_000007.13:g.100859236C>T , CM000669.1:g.100859236C>T | GRCh37 |
| NC_000007.12:g.100645956C>T | NCBI36 |
| NG_012148.1:g.6776G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223127.8:c.568G>A MANE Select | ENSP00000223127.3:p.Asp190Asn | |
| ENST00000223127.7:c.568G>A | ENSP00000223127.3:p.Asp190Asn | |
| ENST00000421736.1:c.66G>A | ||
| ENST00000424135.5:c.333G>A | ENSP00000404799.1:p.Thr111= | |
| ENST00000478082.5:n.605G>A | ||
| ENST00000489927.1:n.515G>A | ||
| NM_001084.4:c.568G>A | NP_001075.1:p.Asp190Asn | |
| NM_001084.5:c.568G>A MANE Select | NP_001075.1:p.Asp190Asn |