Linked Data
ClinVar Variation Id:
1309924
dbSNP Id:
rs781018234
ExAC:
2:203395636 C / G
gnomAD v2:
2-203395636-C-G
gnomAD v4:
2-202530913-C-G
ERepo:
CA2061285/MONDO:0015924/125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202530913C>G , CM000664.2:g.202530913C>G | GRCh38 |
| NC_000002.11:g.203395636C>G , CM000664.1:g.203395636C>G | GRCh37 |
| NC_000002.10:g.203103881C>G | NCBI36 |
| NG_009363.1:g.159587C>G , LRG_712:g.159587C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1087C>G MANE Select | ENSP00000363708.4:p.Leu363Val | |
| ENST00000638587.1:c.1018C>G | ENSP00000491062.1:p.Leu340Val | |
| ENST00000374574.2:c.1087C>G | ENSP00000363702.2:p.Leu363Val | |
| ENST00000374580.8:c.1087C>G | ENSP00000363708.4:p.Leu363Val | |
| NM_001204.6:c.1087C>G , LRG_712t1:c.1087C>G | NP_001195.2:p.Leu363Val | |
| XM_011511687.1:c.1087C>G | XP_011509989.1:p.Leu363Val | |
| XM_011511688.1:c.1087C>G | XP_011509990.1:p.Leu363Val | |
| NM_001204.7:c.1087C>G MANE Select | NP_001195.2:p.Leu363Val |