Linked Data
ClinVar Variation Id:
419627
dbSNP Id:
rs1064794000
gnomAD v4:
8-41933575-C-T
COSMIC:
COSM5461311
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41933575C>T , CM000670.2:g.41933575C>T | GRCh38 |
| NC_000008.10:g.41791093C>T , CM000670.1:g.41791093C>T | GRCh37 |
| NC_000008.9:g.41910250C>T | NCBI36 |
| NG_042093.1:g.123452G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265713.8:c.4645G>A MANE Select | ENSP00000265713.2:p.Gly1549Ser | |
| ENST00000396930.4:c.4645G>A | ENSP00000380136.3:p.Gly1549Ser | |
| ENST00000406337.6:c.4651G>A | ENSP00000385888.2:p.Gly1551Ser | |
| ENST00000648335.1:c.4645G>A | ENSP00000497086.1:p.Gly1549Ser | |
| ENST00000649817.1:c.3326G>A | ||
| ENST00000265713.6:c.4645G>A | ENSP00000265713.2:p.Gly1549Ser | |
| ENST00000396930.3:c.4645G>A | ENSP00000380136.3:p.Gly1549Ser | |
| ENST00000406337.5:c.4645G>A | ENSP00000385888.1:p.Gly1549Ser | |
| NM_001099412.1:c.4645G>A | NP_001092882.1:p.Gly1549Ser | |
| NM_001099413.1:c.4645G>A | NP_001092883.1:p.Gly1549Ser | |
| NM_006766.3:c.4645G>A | NP_006757.2:p.Gly1549Ser | |
| NM_006766.4:c.4645G>A | NP_006757.2:p.Gly1549Ser | |
| XM_011544656.1:c.4777G>A | XP_011542958.1:p.Gly1593Ser | |
| XM_011544657.1:c.4777G>A | XP_011542959.1:p.Gly1593Ser | |
| XM_011544658.1:c.4777G>A | XP_011542960.1:p.Gly1593Ser | |
| XM_011544659.1:c.4756G>A | XP_011542961.1:p.Gly1586Ser | |
| XM_011544660.1:c.4663G>A | XP_011542962.1:p.Gly1555Ser | |
| XM_011544656.2:c.4777G>A | XP_011542958.1:p.Gly1593Ser | |
| XM_011544657.3:c.4777G>A | XP_011542959.1:p.Gly1593Ser | |
| XM_011544658.3:c.4777G>A | XP_011542960.1:p.Gly1593Ser | |
| XM_011544659.2:c.4756G>A | XP_011542961.1:p.Gly1586Ser | |
| XM_017013863.1:c.4645G>A | XP_016869352.1:p.Gly1549Ser | |
| XM_017013864.2:c.4645G>A | XP_016869353.1:p.Gly1549Ser | |
| XM_024447285.1:c.3217G>A | XP_024303053.1:p.Gly1073Ser | |
| NM_006766.5:c.4645G>A MANE Select | NP_006757.2:p.Gly1549Ser |