Linked Data
ClinVar Variation Id:
11806
ClinVar RCV Id:
RCV002468923
dbSNP Id:
rs151340629
PubMed:
PMID:9602200
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50072553G>T , CM000685.2:g.50072553G>T | GRCh38 |
| NC_000023.10:g.49837208G>T , CM000685.1:g.49837208G>T | GRCh37 |
| NC_000023.9:g.49723948G>T | NCBI36 |
| NG_007159.3:g.154938G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376091.8:c.380G>T MANE Select | ENSP00000365259.3:p.Gly127Val | |
| ENST00000642885.1:c.170G>T | ENSP00000496632.1:p.Gly57Val | |
| ENST00000643129.1:c.667G>T | ||
| ENST00000646398.1:c.170G>T | ENSP00000495122.1:p.Gly57Val | |
| ENST00000307367.2:c.170G>T | ENSP00000304257.2:p.Gly57Val | |
| ENST00000376088.7:c.380G>T | ENSP00000365256.3:p.Gly127Val | |
| ENST00000376091.7:c.380G>T | ENSP00000365259.3:p.Gly127Val | |
| ENST00000376108.7:c.170G>T | ENSP00000365276.3:p.Gly57Val | |
| NM_000084.4:c.170G>T | NP_000075.1:p.Gly57Val | |
| NM_001127898.3:c.380G>T | NP_001121370.1:p.Gly127Val | |
| NM_001127899.3:c.380G>T | NP_001121371.1:p.Gly127Val | |
| NM_001282163.1:c.230G>T | NP_001269092.1:p.Gly77Val | |
| XM_011543888.1:c.380G>T | XP_011542190.1:p.Gly127Val | |
| XM_011543889.1:c.170G>T | XP_011542191.1:p.Gly57Val | |
| XM_017029257.1:c.392G>T | XP_016884746.1:p.Gly131Val | |
| XM_017029258.1:c.392G>T | XP_016884747.1:p.Gly131Val | |
| NM_001127898.4:c.380G>T MANE Select | NP_001121370.1:p.Gly127Val | |
| NM_000084.5:c.170G>T | NP_000075.1:p.Gly57Val | |
| NM_001127899.4:c.380G>T | NP_001121371.1:p.Gly127Val | |
| NM_001282163.2:c.230G>T | NP_001269092.1:p.Gly77Val |