Linked Data
dbSNP Id:
rs2032821544
gnomAD v3:
19-7690200-C-T
gnomAD v4:
19-7690200-C-T
MyVariant Identifiers:
chr19:g.7755086C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7690200C>T , CM000681.2:g.7690200C>T | GRCh38 |
| NC_000019.9:g.7755086C>T , CM000681.1:g.7755086C>T | GRCh37 |
| NC_000019.8:g.7661086C>T | NCBI36 |
| NG_029554.1:g.16947G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000597921.6:c.687G>A MANE Select | ENSP00000471974.1:p.Lys229= | |
| ENST00000346664.9:c.687G>A | ENSP00000264072.6:p.Lys229= | |
| ENST00000360067.8:c.684G>A | ENSP00000353178.4:p.Lys228= | |
| ENST00000597312.5:n.1212G>A | ||
| ENST00000597921.5:c.687G>A | ENSP00000471974.1:p.Lys229= | |
| ENST00000597934.1:n.1049G>A | ||
| ENST00000598803.5:n.1182G>A | ||
| NM_001207019.2:c.684G>A | NP_001193948.2:p.Lys228= | |
| NM_001220500.1:c.687G>A | NP_001207429.1:p.Lys229= | |
| NM_002002.4:c.687G>A | NP_001993.2:p.Lys229= | |
| XM_005272462.3:c.687G>A | XP_005272519.1:p.Lys229= | |
| XM_005272462.4:c.687G>A | XP_005272519.1:p.Lys229= | |
| NM_001220500.2:c.687G>A MANE Select | NP_001207429.1:p.Lys229= | |
| NM_001207019.3:c.684G>A | NP_001193948.2:p.Lys228= | |
| NM_002002.5:c.687G>A | NP_001993.2:p.Lys229= |