Linked Data
ClinVar Variation Id:
3179131
ClinVar RCV Id:
RCV004467485
dbSNP Id:
rs760597889
ExAC:
3:47041634 C / G
gnomAD v2:
3-47041634-C-G
gnomAD v3:
3-47000144-C-G
gnomAD v4:
3-47000144-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47000144C>G , CM000665.2:g.47000144C>G | GRCh38 |
| NC_000003.11:g.47041634C>G , CM000665.1:g.47041634C>G | GRCh37 |
| NC_000003.10:g.47016638C>G | NCBI36 |
| NG_031914.1:g.25462C>G , LRG_568:g.25462C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450053.8:c.4045C>G MANE Select | ENSP00000415034.2:p.Leu1349Val | |
| ENST00000651747.1:c.3943C>G | ENSP00000499216.1:p.Leu1315Val | |
| ENST00000652744.1:n.382C>G | ||
| ENST00000416683.5:c.1960-52C>G | ||
| ENST00000450053.7:c.4045C>G | ENSP00000415034.2:p.Leu1349Val | |
| NM_015175.2:c.4045C>G , LRG_568t1:c.4045C>G | NP_055990.1:p.Leu1349Val | |
| XM_005264992.2:c.3943C>G | XP_005265049.1:p.Leu1315Val | |
| XM_005264993.2:c.517C>G | XP_005265050.1:p.Leu173Val | |
| XM_006713072.2:c.3964C>G | XP_006713135.1:p.Leu1322Val | |
| XM_011533532.1:c.4024C>G | XP_011531834.1:p.Leu1342Val | |
| XM_011533533.1:c.4045C>G | XP_011531835.1:p.Leu1349Val | |
| XM_011533534.1:c.3676C>G | XP_011531836.1:p.Leu1226Val | |
| XM_011533535.1:c.3505C>G | XP_011531837.1:p.Leu1169Val | |
| XM_011533536.1:c.3391C>G | XP_011531838.1:p.Leu1131Val | |
| XM_011533537.1:c.2953C>G | XP_011531839.1:p.Leu985Val | |
| XR_940397.1:n.4221C>G | ||
| XR_940398.1:n.4221C>G | ||
| NM_001365116.1:c.3943C>G | NP_001352045.1:p.Leu1315Val | |
| XM_006713072.3:c.3964C>G | XP_006713135.1:p.Leu1322Val | |
| XM_011533533.2:c.4045C>G | XP_011531835.1:p.Leu1349Val | |
| XM_017006010.1:c.4045C>G | XP_016861499.1:p.Leu1349Val | |
| XM_017006011.1:c.4024C>G | XP_016861500.1:p.Leu1342Val | |
| XM_017006012.1:c.3964C>G | XP_016861501.1:p.Leu1322Val | |
| XM_017006013.1:c.4045C>G | XP_016861502.1:p.Leu1349Val | |
| XM_017006014.1:c.3943C>G | XP_016861503.1:p.Leu1315Val | |
| XM_017006015.1:c.3676C>G | XP_016861504.1:p.Leu1226Val | |
| XM_017006016.1:c.3505C>G | XP_016861505.1:p.Leu1169Val | |
| XM_017006017.1:c.517C>G | XP_016861506.1:p.Leu173Val | |
| XR_940397.2:n.4221C>G | ||
| NM_001365116.2:c.3943C>G | NP_001352045.1:p.Leu1315Val | |
| NM_015175.3:c.4045C>G MANE Select | NP_055990.1:p.Leu1349Val |