Linked Data
ClinVar Variation Id:
3982
dbSNP Id:
rs104894107
ExAC:
9:71679858 G / T
gnomAD v2:
9-71679858-G-T
gnomAD v3:
9-69064942-G-T
gnomAD v4:
9-69064942-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69064942G>T , CM000671.2:g.69064942G>T | GRCh38 |
| NC_000009.11:g.71679858G>T , CM000671.1:g.71679858G>T | GRCh37 |
| NC_000009.10:g.70869678G>T | NCBI36 |
| NG_008845.2:g.34380G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377270.8:c.164G>T | ENSP00000366482.4:p.Gly55Val | |
| ENST00000484259.3:c.389G>T MANE Select | ENSP00000419243.2:p.Gly130Val | |
| ENST00000642330.1:c.384+11682G>T | ENSP00000493770.1:n.384+11682G>T | |
| ENST00000642889.1:c.165+28995G>T | ENSP00000493780.1:n.165+28995G>T | |
| ENST00000643352.1:c.389G>T | ENSP00000496488.1:p.Gly130Val | |
| ENST00000643765.1:c.387G>T | ||
| ENST00000644653.1:c.268G>T | ENSP00000495217.1:p.Val90Leu | |
| ENST00000644977.1:c.*114G>T | ENSP00000495651.1:n.*114G>T | |
| ENST00000645088.1:c.268G>T | ENSP00000495447.1:p.Val90Leu | |
| ENST00000646862.1:c.384+11682G>T | ENSP00000494599.1:n.384+11682G>T | |
| ENST00000377270.7:c.389G>T | ENSP00000366482.3:p.Gly130Val | |
| ENST00000396364.7:c.389G>T | ENSP00000379650.3:p.Gly130Val | |
| ENST00000396366.6:c.389G>T | ENSP00000379652.2:p.Gly130Val | |
| ENST00000484259.1:c.81G>T | ||
| ENST00000498653.5:c.164G>T | ENSP00000418015.1:p.Gly55Val | |
| NM_000144.4:c.389G>T | NP_000135.2:p.Gly130Val | |
| NM_001161706.1:c.389G>T | NP_001155178.1:p.Gly130Val | |
| NM_181425.2:c.389G>T | NP_852090.1:p.Gly130Val | |
| NM_000144.5:c.389G>T MANE Select | NP_000135.2:p.Gly130Val | |
| NM_181425.3:c.389G>T | NP_852090.1:p.Gly130Val |