Linked Data
ClinVar Variation Id:
1694000
ClinVar RCV Id:
RCV002261869
dbSNP Id:
rs759484247
ExAC:
9:71840231 C / T
gnomAD v2:
9-71840231-C-T
gnomAD v3:
9-69225315-C-T
gnomAD v4:
9-69225315-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69225315C>T , CM000671.2:g.69225315C>T | GRCh38 |
| NC_000009.11:g.71840231C>T , CM000671.1:g.71840231C>T | GRCh37 |
| NC_000009.10:g.71030051C>T | NCBI36 |
| NG_016342.1:g.109008C>T | |
| NG_016342.2:g.129409C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348208.9:c.964C>T | ENSP00000345893.4:p.Arg322Trp | |
| ENST00000377245.9:c.964C>T MANE Select | ENSP00000366453.4:p.Arg322Trp | |
| ENST00000535702.6:c.976C>T | ENSP00000442090.1:p.Arg326Trp | |
| ENST00000539225.2:c.1057C>T | ENSP00000438262.1:p.Arg353Trp | |
| ENST00000636247.1:n.1043C>T | ||
| ENST00000636438.1:c.1141C>T | ENSP00000489860.1:p.Arg381Trp | |
| ENST00000642889.1:c.1351C>T | ENSP00000493780.1:p.Arg451Trp | |
| ENST00000643352.1:c.*1152C>T | ENSP00000496488.1:n.*1152C>T | |
| ENST00000645088.1:c.*1271C>T | ENSP00000495447.1:n.*1271C>T | |
| ENST00000647986.1:c.895C>T | ENSP00000496877.1:p.Arg299Trp | |
| ENST00000648087.1:n.1281C>T | ||
| ENST00000648153.1:n.107C>T | ||
| ENST00000648862.1:n.176C>T | ||
| ENST00000649114.1:c.964C>T | ENSP00000497328.1:p.Arg322Trp | |
| ENST00000649134.1:c.976C>T | ENSP00000498068.1:p.Arg326Trp | |
| ENST00000649783.1:n.988C>T | ||
| ENST00000649943.1:c.964C>T | ENSP00000497539.1:p.Arg322Trp | |
| ENST00000650084.1:c.967C>T | ENSP00000497861.1:p.Arg323Trp | |
| ENST00000650333.1:c.895C>T | ENSP00000496791.1:p.Arg299Trp | |
| ENST00000650460.1:c.237C>T | ||
| ENST00000650522.1:n.976+3819C>T | ||
| ENST00000265384.11:c.964C>T | ENSP00000265384.7:p.Arg322Trp | |
| ENST00000348208.8:c.964C>T | ENSP00000345893.4:p.Arg322Trp | |
| ENST00000377245.8:c.964C>T | ENSP00000366453.4:p.Arg322Trp | |
| ENST00000453658.6:c.895C>T | ENSP00000392178.2:p.Arg299Trp | |
| ENST00000535702.5:c.976C>T | ENSP00000442090.1:p.Arg326Trp | |
| ENST00000539225.1:c.1057C>T | ENSP00000438262.1:p.Arg353Trp | |
| NM_001170414.2:c.895C>T | NP_001163885.1:p.Arg299Trp | |
| NM_001170415.1:c.976C>T | NP_001163886.1:p.Arg326Trp | |
| NM_001170416.1:c.1057C>T | NP_001163887.1:p.Arg353Trp | |
| NM_001170630.1:c.964C>T | NP_001164101.1:p.Arg322Trp | |
| NM_004817.3:c.964C>T | NP_004808.2:p.Arg322Trp | |
| NM_201629.3:c.964C>T | NP_963923.1:p.Arg322Trp | |
| XM_005252314.1:c.976C>T | XP_005252371.1:p.Arg326Trp | |
| XM_006717324.2:c.958C>T | XP_006717387.1:p.Arg320Trp | |
| XM_011519204.1:c.895C>T | XP_011517506.1:p.Arg299Trp | |
| XM_011519205.1:c.895C>T | XP_011517507.1:p.Arg299Trp | |
| XM_011519206.1:c.895C>T | XP_011517508.1:p.Arg299Trp | |
| XM_011519207.1:c.895C>T | XP_011517509.1:p.Arg299Trp | |
| XM_011519208.1:c.895C>T | XP_011517510.1:p.Arg299Trp | |
| XM_011519209.1:c.895C>T | XP_011517511.1:p.Arg299Trp | |
| NM_004817.4:c.964C>T MANE Select | NP_004808.2:p.Arg322Trp | |
| XM_005252314.2:c.976C>T | XP_005252371.1:p.Arg326Trp | |
| XM_011519206.2:c.895C>T | XP_011517508.1:p.Arg299Trp | |
| XM_011519207.2:c.895C>T | XP_011517509.1:p.Arg299Trp | |
| XM_011519208.2:c.895C>T | XP_011517510.1:p.Arg299Trp | |
| XM_011519209.2:c.895C>T | XP_011517511.1:p.Arg299Trp | |
| XM_017015327.2:c.964C>T | XP_016870816.1:p.Arg322Trp | |
| XM_017015328.1:c.976C>T | XP_016870817.1:p.Arg326Trp | |
| NM_001170416.2:c.1057C>T | NP_001163887.1:p.Arg353Trp | |
| NM_001369870.1:c.895C>T | NP_001356799.1:p.Arg299Trp | |
| NM_001369871.1:c.895C>T | NP_001356800.1:p.Arg299Trp | |
| NM_001369872.1:c.964C>T | NP_001356801.1:p.Arg322Trp | |
| NM_001369873.1:c.964C>T | NP_001356802.1:p.Arg322Trp | |
| NM_001369874.1:c.976C>T | NP_001356803.1:p.Arg326Trp | |
| NM_001369875.1:c.976C>T | NP_001356804.1:p.Arg326Trp |