Linked Data
dbSNP Id:
rs770515770
ExAC:
15:68502052 G / C
gnomAD v2:
15-68502052-G-C
gnomAD v4:
15-68209714-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68209714G>C , CM000677.2:g.68209714G>C | GRCh38 |
| NC_000015.9:g.68502052G>C , CM000677.1:g.68502052G>C | GRCh37 |
| NC_000015.8:g.66289106G>C | NCBI36 |
| NG_008764.2:g.52498C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.588C>G MANE Select | ENSP00000249806.5:p.Cys196Trp | |
| ENST00000562767.2:c.84-12086C>G | ENSP00000456336.1:n.84-12086C>G | |
| ENST00000563917.2:n.430C>G | ||
| ENST00000565471.6:c.129C>G | ENSP00000457384.1:p.Cys43Trp | |
| ENST00000635747.1:c.*491C>G | ENSP00000490627.1:n.*491C>G | |
| ENST00000636212.1:c.*258C>G | ENSP00000489851.1:n.*258C>G | |
| ENST00000636314.1:c.284C>G | ENSP00000490295.1:p.Ala95Gly | |
| ENST00000636674.1:n.1690C>G | ||
| ENST00000636964.1:n.2116C>G | ||
| ENST00000637054.1:c.198+8822C>G | ENSP00000490807.1:n.198+8822C>G | |
| ENST00000637223.1:c.*302C>G | ENSP00000490010.1:n.*302C>G | |
| ENST00000637329.1:c.557C>G | ||
| ENST00000637450.1:c.*242C>G | ENSP00000490204.1:n.*242C>G | |
| ENST00000637494.1:c.300C>G | ENSP00000490057.1:p.Cys100Trp | |
| ENST00000637667.1:c.489C>G | ENSP00000489843.1:p.Cys163Trp | |
| ENST00000637823.1:c.413C>G | ||
| ENST00000637888.1:c.198+8822C>G | ENSP00000490546.1:n.198+8822C>G | |
| ENST00000638076.1:c.*191C>G | ENSP00000490373.1:n.*191C>G | |
| ENST00000638144.1:n.231C>G | ||
| ENST00000646164.1:c.38+8822C>G | ||
| ENST00000249806.9:c.588C>G | ENSP00000249806.5:p.Cys196Trp | |
| ENST00000538696.5:c.684C>G | ENSP00000445770.1:p.Cys228Trp | |
| ENST00000562767.1:c.84-12086C>G | ENSP00000456336.1:n.84-12086C>G | |
| ENST00000563917.1:n.488C>G | ||
| ENST00000564752.1:c.614C>G | ENSP00000457822.1:p.Ala205Gly | |
| ENST00000565471.5:c.129C>G | ENSP00000457384.1:p.Cys43Trp | |
| ENST00000566347.5:c.399C>G | ENSP00000457783.1:p.Cys133Trp | |
| ENST00000567060.5:c.304C>G | ENSP00000454818.1:p.Leu102Val | |
| NM_017882.2:c.588C>G | NP_060352.1:p.Cys196Trp | |
| XR_931861.1:n.810C>G | ||
| NM_017882.3:c.588C>G MANE Select | NP_060352.1:p.Cys196Trp |