Linked Data
ClinVar Variation Id:
48100
dbSNP Id:
rs372488542
ExAC:
8:72129214 G / A
gnomAD v2:
8-72129214-G-A
gnomAD v3:
8-71216979-G-A
gnomAD v4:
8-71216979-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.71216979G>A , CM000670.2:g.71216979G>A | GRCh38 |
| NC_000008.10:g.72129214G>A , CM000670.1:g.72129214G>A | GRCh37 |
| NC_000008.9:g.72291768G>A | NCBI36 |
| NG_011735.2:g.150254C>T | |
| NG_011735.3:g.336152C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340726.8:c.1185C>T MANE Select | ENSP00000342626.3:p.Asn395= | |
| ENST00000388741.7:c.1083C>T | ENSP00000373393.2:p.Asn361= | |
| ENST00000419131.6:c.1080C>T | ENSP00000410176.1:p.Asn360= | |
| ENST00000465115.6:c.*464C>T | ENSP00000428391.1:n.*464C>T | |
| ENST00000493349.2:c.575C>T | ||
| ENST00000496494.6:n.1648C>T | ||
| ENST00000642391.1:c.*862C>T | ENSP00000496700.1:n.*862C>T | |
| ENST00000643681.1:c.1272C>T | ENSP00000495390.1:p.Asn424= | |
| ENST00000644229.1:c.1167C>T | ENSP00000494568.1:p.Asn389= | |
| ENST00000644424.1:n.255C>T | ||
| ENST00000644712.1:c.1164C>T | ENSP00000496188.1:p.Asn388= | |
| ENST00000645793.1:c.1185C>T | ENSP00000496255.1:p.Asn395= | |
| ENST00000647540.1:c.1185C>T | ENSP00000494438.1:p.Asn395= | |
| ENST00000303824.11:c.1167C>T | ENSP00000303221.7:p.Asn389= | |
| ENST00000340726.7:c.1185C>T | ENSP00000342626.3:p.Asn395= | |
| ENST00000388740.4:c.1086C>T | ENSP00000373392.3:p.Asn362= | |
| ENST00000388741.6:c.1083C>T | ENSP00000373393.2:p.Asn361= | |
| ENST00000388742.8:c.1185C>T | ENSP00000373394.4:p.Asn395= | |
| ENST00000388743.6:c.1182C>T | ENSP00000373395.2:p.Asn394= | |
| ENST00000419131.5:c.1080C>T | ENSP00000410176.1:p.Asn360= | |
| ENST00000465115.5:c.*464C>T | ENSP00000428391.1:n.*464C>T | |
| ENST00000493349.1:c.*130C>T | ENSP00000428517.1:n.*130C>T | |
| ENST00000496494.5:n.1680C>T | ||
| NM_000503.5:c.1185C>T | NP_000494.2:p.Asn395= | |
| NM_001288574.1:c.1167C>T | NP_001275503.1:p.Asn389= | |
| NM_001288575.1:c.819C>T | NP_001275504.1:p.Asn273= | |
| NM_172058.3:c.1185C>T | NP_742055.1:p.Asn395= | |
| NM_172059.3:c.1080C>T | NP_742056.1:p.Asn360= | |
| NM_172060.3:c.1086C>T | NP_742057.1:p.Asn362= | |
| XM_011517481.1:c.1257C>T | XP_011515783.1:p.Asn419= | |
| XM_011517482.1:c.1272C>T | XP_011515784.1:p.Asn424= | |
| XM_011517483.1:c.1182C>T | XP_011515785.1:p.Asn394= | |
| XM_011517484.1:c.1170C>T | XP_011515786.1:p.Asn390= | |
| XM_011517485.1:c.1185C>T | XP_011515787.1:p.Asn395= | |
| XM_011517486.1:c.1185C>T | XP_011515788.1:p.Asn395= | |
| XM_011517487.1:c.1185C>T | XP_011515789.1:p.Asn395= | |
| XM_011517488.1:c.1182C>T | XP_011515790.1:p.Asn394= | |
| XM_011517489.1:c.1122C>T | XP_011515791.1:p.Asn374= | |
| XM_011517490.1:c.1086C>T | XP_011515792.1:p.Asn362= | |
| XM_011517491.1:c.1086C>T | XP_011515793.1:p.Asn362= | |
| XM_011517492.1:c.834C>T | XP_011515794.1:p.Asn278= | |
| NM_172059.4:c.1167C>T | NP_742056.2:p.Asn389= | |
| XM_011517483.2:c.1182C>T | XP_011515785.1:p.Asn394= | |
| XM_011517484.3:c.1257C>T | XP_011515786.2:p.Asn419= | |
| XM_017013201.1:c.1272C>T | XP_016868690.1:p.Asn424= | |
| XM_017013202.1:c.1272C>T | XP_016868691.1:p.Asn424= | |
| XM_017013203.2:c.1269C>T | XP_016868692.1:p.Asn423= | |
| XM_017013204.2:c.1254C>T | XP_016868693.1:p.Asn418= | |
| XM_017013205.2:c.1272C>T | XP_016868694.1:p.Asn424= | |
| XM_017013206.1:c.1185C>T | XP_016868695.1:p.Asn395= | |
| XM_017013207.2:c.1182C>T | XP_016868696.1:p.Asn394= | |
| XM_017013208.2:c.1182C>T | XP_016868697.1:p.Asn394= | |
| XM_017013210.2:c.1164C>T | XP_016868699.1:p.Asn388= | |
| XM_017013211.2:c.1122C>T | XP_016868700.1:p.Asn374= | |
| XM_017013212.2:c.1086C>T | XP_016868701.1:p.Asn362= | |
| XM_017013213.1:c.834C>T | XP_016868702.1:p.Asn278= | |
| NM_000503.6:c.1185C>T MANE Select | NP_000494.2:p.Asn395= | |
| NM_001288574.2:c.1167C>T | NP_001275503.1:p.Asn389= | |
| NM_001288575.2:c.819C>T | NP_001275504.1:p.Asn273= | |
| NM_001370333.1:c.1272C>T | NP_001357262.1:p.Asn424= | |
| NM_001370334.1:c.1185C>T | NP_001357263.1:p.Asn395= | |
| NM_001370335.1:c.1185C>T | NP_001357264.1:p.Asn395= | |
| NM_001370336.1:c.1164C>T | NP_001357265.1:p.Asn388= | |
| NM_172058.4:c.1185C>T | NP_742055.1:p.Asn395= | |
| NM_172059.5:c.1167C>T | NP_742056.2:p.Asn389= |