Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6110471G>T , CM000674.2:g.6110471G>T | GRCh38 |
| NC_000012.11:g.6219637G>T , CM000674.1:g.6219637G>T | GRCh37 |
| NC_000012.10:g.6089898G>T | NCBI36 |
| NG_009072.1:g.19200C>A | |
| NG_009072.2:g.19200C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000552.5:c.435C>A MANE Select | NP_000543.3:p.Asn145Lys |
| ENST00000261405.10:c.435C>A MANE Select | ENSP00000261405.5:p.Asn145Lys |
| NM_000552.3:c.435C>A | NP_000543.2:p.Asn145Lys |
| NM_000552.4:c.435C>A | NP_000543.2:p.Asn145Lys |
| ENST00000261405.9:c.435C>A | ENSP00000261405.5:p.Asn145Lys |
| ENST00000321023.5:c.*494C>A | ENSP00000461331.1:n.*494C>A |
| ENST00000538635.5:n.420+44C>A |