Linked Data
ClinVar Variation Id:
388614
dbSNP Id:
rs201542666
ExAC:
2:215976353 G / A
gnomAD v2:
2-215976353-G-A
gnomAD v3:
2-215111630-G-A
gnomAD v4:
2-215111630-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215111630G>A , CM000664.2:g.215111630G>A | GRCh38 |
| NC_000002.11:g.215976353G>A , CM000664.1:g.215976353G>A | GRCh37 |
| NC_000002.10:g.215684598G>A | NCBI36 |
| NG_007074.1:g.31799C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.130C>T MANE Select | ENSP00000272895.7:p.Arg44Trp | |
| ENST00000272895.11:c.130C>T | ENSP00000272895.7:p.Arg44Trp | |
| ENST00000412081.1:c.130C>T | ENSP00000400231.1:p.Arg44Trp | |
| NM_173076.2:c.130C>T | NP_775099.2:p.Arg44Trp | |
| NR_103740.1:n.350C>T | ||
| XM_011510951.1:c.130C>T | XP_011509253.1:p.Arg44Trp | |
| XM_011510952.1:c.130C>T | XP_011509254.1:p.Arg44Trp | |
| XM_011510951.2:c.130C>T | XP_011509253.1:p.Arg44Trp | |
| NM_173076.3:c.130C>T MANE Select | NP_775099.2:p.Arg44Trp | |
| NR_103740.2:n.548C>T |