Linked Data
ClinVar Variation Id:
456508
dbSNP Id:
rs12118058
ExAC:
1:100382265 C / T
gnomAD v2:
1-100382265-C-T
gnomAD v3:
1-99916709-C-T
gnomAD v4:
1-99916709-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99916709C>T , CM000663.2:g.99916709C>T | GRCh38 |
| NC_000001.10:g.100382265C>T , CM000663.1:g.100382265C>T | GRCh37 |
| NC_000001.9:g.100154853C>T | NCBI36 |
| NG_012865.1:g.71626C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361915.8:c.4459C>T MANE Select | ENSP00000355106.3:p.Arg1487Ter | |
| ENST00000637337.1:n.4670C>T | ||
| ENST00000294724.8:c.4459C>T | ENSP00000294724.4:p.Arg1487Ter | |
| ENST00000361302.7:c.4411C>T | ENSP00000354971.3:p.Arg1471Ter | |
| ENST00000361522.4:c.4408C>T | ENSP00000354635.4:p.Arg1470Ter | |
| ENST00000361915.7:c.4459C>T | ENSP00000355106.3:p.Arg1487Ter | |
| ENST00000370161.6:c.4411C>T | ENSP00000359180.2:p.Arg1471Ter | |
| ENST00000370163.7:c.4459C>T | ENSP00000359182.3:p.Arg1487Ter | |
| ENST00000370165.7:c.4459C>T | ENSP00000359184.3:p.Arg1487Ter | |
| NM_000028.2:c.4459C>T | NP_000019.2:p.Arg1487Ter | |
| NM_000642.2:c.4459C>T | NP_000633.2:p.Arg1487Ter | |
| NM_000643.2:c.4459C>T | NP_000634.2:p.Arg1487Ter | |
| NM_000644.2:c.4459C>T | NP_000635.2:p.Arg1487Ter | |
| NM_000645.2:c.4408C>T | NP_000636.2:p.Arg1470Ter | |
| NM_000646.2:c.4411C>T | NP_000637.2:p.Arg1471Ter | |
| XM_005270557.1:c.4459C>T | XP_005270614.1:p.Arg1487Ter | |
| XR_947626.1:n.1318-3492G>A | ||
| XR_947627.1:n.1207-3492G>A | ||
| XR_947628.1:n.1312-3492G>A | ||
| XR_947630.1:n.1250-3492G>A | ||
| XR_947632.1:n.1136-3492G>A | ||
| XR_947633.1:n.1247-3492G>A | ||
| XR_947634.1:n.661-3492G>A | ||
| XR_947635.1:n.729-3492G>A | ||
| XM_005270557.2:c.4459C>T | XP_005270614.1:p.Arg1487Ter | |
| XM_017000501.2:c.2719C>T | XP_016855990.1:p.Arg907Ter | |
| NM_000642.3:c.4459C>T MANE Select | NP_000633.2:p.Arg1487Ter |