ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96253840G>T , CM000664.2:g.96253840G>T | GRCh38 |
| NC_000002.11:g.96919578G>T , CM000664.1:g.96919578G>T | GRCh37 |
| NC_000002.10:g.96283305G>T | NCBI36 |
| NG_027695.1:g.17174C>A , LRG_528:g.17174C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.685C>A MANE Select | ENSP00000258439.3:p.Gln229Lys | |
| ENST00000258439.7:c.685C>A | ENSP00000258439.2:p.Gln229Lys | |
| ENST00000432959.1:c.685C>A | ENSP00000416660.1:p.Gln229Lys | |
| ENST00000435268.1:c.433C>A | ENSP00000411810.1:p.Gln145Lys | |
| NM_001193304.2:c.685C>A | NP_001180233.1:p.Gln229Lys | |
| NM_017849.3:c.685C>A , LRG_528t1:c.685C>A | NP_060319.1:p.Gln229Lys | |
| XM_017004450.1:c.-234C>A | XP_016859939.1:n.-234C>A | |
| XM_017004452.1:c.433C>A | XP_016859941.1:p.Gln145Lys | |
| NM_001193304.3:c.685C>A | NP_001180233.1:p.Gln229Lys | |
| NM_017849.4:c.685C>A MANE Select | NP_060319.1:p.Gln229Lys |