Linked Data
ClinVar Variation Id:
429349
dbSNP Id:
rs755133567
ExAC:
13:26151250 C / T
gnomAD v2:
13-26151250-C-T
gnomAD v3:
13-25577112-C-T
gnomAD v4:
13-25577112-C-T
COSMIC:
COSM1366111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.25577112C>T , CM000675.2:g.25577112C>T | GRCh38 |
| NC_000013.10:g.26151250C>T , CM000675.1:g.26151250C>T | GRCh37 |
| NC_000013.9:g.25049250C>T | NCBI36 |
| NG_042855.1:g.210102C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281620.11:c.1746C>T | ENSP00000281620.7:n.1746C>T | |
| ENST00000682472.1:c.1756C>T | ENSP00000508103.1:p.Arg586Ter | |
| ENST00000682942.1:n.2197C>T | ||
| ENST00000682943.1:c.*1290C>T | ENSP00000507323.1:n.*1290C>T | |
| ENST00000683303.1:c.1756C>T | ENSP00000508339.1:p.Arg586Ter | |
| ENST00000683455.1:n.1014C>T | ||
| ENST00000683845.1:n.2196C>T | ||
| ENST00000683945.1:n.1668C>T | ||
| ENST00000683960.1:c.1756C>T | ENSP00000506846.1:p.Arg586Ter | |
| ENST00000684025.1:n.1821C>T | ||
| ENST00000684283.1:c.1756C>T | ENSP00000507994.1:p.Arg586Ter | |
| ENST00000684424.1:c.1636C>T | ENSP00000507489.1:p.Arg546Ter | |
| ENST00000684551.1:n.927C>T | ||
| ENST00000381655.7:c.1756C>T MANE Select | ENSP00000371070.2:p.Arg586Ter | |
| ENST00000255283.9:c.1624+5336C>T | ENSP00000255283.9:n.1624+5336C>T | |
| ENST00000281620.10:c.1276C>T | ENSP00000281620.6:p.Arg426Ter | |
| ENST00000381655.6:c.1756C>T | ENSP00000371070.2:p.Arg586Ter | |
| ENST00000491840.1:n.507C>T | ||
| NM_001313741.1:c.1636C>T | NP_001300670.1:p.Arg546Ter | |
| NM_016529.4:c.1756C>T | NP_057613.4:p.Arg586Ter | |
| NM_016529.5:c.1756C>T | NP_057613.4:p.Arg586Ter | |
| XM_005266419.1:c.1636C>T | XP_005266476.1:p.Arg546Ter | |
| XM_011535103.1:c.1756C>T | XP_011533405.1:p.Arg586Ter | |
| XM_011535104.1:c.1636C>T | XP_011533406.1:p.Arg546Ter | |
| XM_011535106.1:c.1756C>T | XP_011533408.1:p.Arg586Ter | |
| XM_011535107.1:c.1756C>T | XP_011533409.1:p.Arg586Ter | |
| XM_011535108.1:c.1276C>T | XP_011533410.1:p.Arg426Ter | |
| XM_011535109.1:c.1276C>T | XP_011533411.1:p.Arg426Ter | |
| XM_011535110.1:c.1207C>T | XP_011533412.1:p.Arg403Ter | |
| XM_011535111.1:c.1207C>T | XP_011533413.1:p.Arg403Ter | |
| XM_011535112.1:c.1276C>T | XP_011533414.1:p.Arg426Ter | |
| XM_011535113.1:c.1756C>T | XP_011533415.1:p.Arg586Ter | |
| XM_011535114.1:c.1756C>T | XP_011533416.1:p.Arg586Ter | |
| XM_011535115.1:c.286C>T | XP_011533417.1:p.Arg96Ter | |
| XM_011535104.3:c.1636C>T | XP_011533406.1:p.Arg546Ter | |
| XM_011535107.3:c.1756C>T | XP_011533409.1:p.Arg586Ter | |
| XM_011535109.3:c.1276C>T | XP_011533411.1:p.Arg426Ter | |
| XM_011535113.2:c.1756C>T | XP_011533415.1:p.Arg586Ter | |
| XM_017020625.2:c.1756C>T | XP_016876114.1:p.Arg586Ter | |
| XM_017020626.1:c.1756C>T | XP_016876115.1:p.Arg586Ter | |
| XM_024449369.1:c.1162C>T | XP_024305137.1:p.Arg388Ter | |
| NM_016529.6:c.1756C>T MANE Select | NP_057613.4:p.Arg586Ter |