Linked Data
ClinVar Variation Id:
755737
ClinVar RCV Id:
RCV000933186
dbSNP Id:
rs756039552
ExAC:
15:45409295 G / T
gnomAD v2:
15-45409295-G-T
gnomAD v3:
15-45117097-G-T
gnomAD v4:
15-45117097-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45117097G>T , CM000677.2:g.45117097G>T | GRCh38 |
| NC_000015.9:g.45409295G>T , CM000677.1:g.45409295G>T | GRCh37 |
| NC_000015.8:g.43196587G>T | NCBI36 |
| NG_009447.1:g.2065C>A | |
| NG_016992.1:g.7773G>T | |
| NG_033105.1:g.17781C>A | |
| NG_033105.2:g.17781C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323030.6:c.561G>T MANE Select | ENSP00000319705.5:p.Ala187= | |
| ENST00000323030.5:c.561G>T | ENSP00000319705.5:p.Ala187= | |
| ENST00000350243.10:n.1202G>T | ||
| ENST00000491993.2:c.*628G>T | ENSP00000454110.1:n.*628G>T | |
| NM_207581.3:c.561G>T | NP_997464.2:p.Ala187= | |
| XM_017022180.1:c.612G>T | XP_016877669.1:p.Ala204= | |
| NM_207581.4:c.561G>T MANE Select | NP_997464.2:p.Ala187= |