Linked Data
ClinVar Variation Id:
1379146
ClinVar RCV Id:
RCV001883621
dbSNP Id:
rs2151544934
gnomAD v4:
17-31330466-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31330466T>G , CM000679.2:g.31330466T>G | GRCh38 |
| NC_000017.10:g.29657484T>G , CM000679.1:g.29657484T>G | GRCh37 |
| NC_000017.9:g.26681610T>G | NCBI36 |
| NG_009018.1:g.240490T>G , LRG_214:g.240490T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.1968T>G | ENSP00000492721.2:n.1968T>G | |
| ENST00000696138.1:c.5762T>G | ENSP00000512431.1:p.Leu1921Trp | |
| ENST00000684826.1:c.344T>G | ENSP00000509994.1:p.Leu115Trp | |
| ENST00000687027.1:c.-65T>G | ENSP00000508715.1:n.-65T>G | |
| ENST00000687863.1:n.2425T>G | ||
| ENST00000691014.1:c.5810T>G | ENSP00000510595.1:p.Leu1937Trp | |
| ENST00000693617.1:c.344T>G | ENSP00000510031.1:p.Leu115Trp | |
| ENST00000358273.9:c.5780T>G MANE Select | ENSP00000351015.4:p.Leu1927Trp | |
| ENST00000356175.7:c.5717T>G | ENSP00000348498.3:p.Leu1906Trp | |
| ENST00000358273.8:c.5780T>G | ENSP00000351015.4:p.Leu1927Trp | |
| ENST00000456735.6:c.4715T>G | ENSP00000389907.2:p.Leu1572Trp | |
| ENST00000479536.2:c.138T>G | ||
| ENST00000493220.5:n.4253T>G | ||
| ENST00000579081.5:c.5916T>G | ENSP00000462408.1:n.5916T>G | |
| ENST00000581113.6:n.1097T>G | ||
| NM_000267.3:c.5717T>G , LRG_214t1:c.5717T>G | NP_000258.1:p.Leu1906Trp | |
| NM_001042492.2:c.5780T>G , LRG_214t2:c.5780T>G | NP_001035957.1:p.Leu1927Trp | |
| XM_005257983.1:c.5780T>G | XP_005258040.1:p.Leu1927Trp | |
| XM_005257984.1:c.5717T>G | XP_005258041.1:p.Leu1906Trp | |
| XM_006721922.1:c.5810T>G | XP_006721985.1:p.Leu1937Trp | |
| XM_006721923.2:c.5771T>G | XP_006721986.1:p.Leu1924Trp | |
| XM_006721924.1:c.5810T>G | XP_006721987.1:p.Leu1937Trp | |
| XM_006721925.1:c.5747T>G | XP_006721988.1:p.Leu1916Trp | |
| XM_006721926.2:c.5810T>G | XP_006721989.1:p.Leu1937Trp | |
| XM_006721927.1:c.5810T>G | XP_006721990.1:p.Leu1937Trp | |
| XM_011524852.1:c.5807T>G | XP_011523154.1:p.Leu1936Trp | |
| XM_011524853.1:c.5771T>G | XP_011523155.1:p.Leu1924Trp | |
| XM_011524854.1:c.5771T>G | XP_011523156.1:p.Leu1924Trp | |
| XM_011524855.1:c.5771T>G | XP_011523157.1:p.Leu1924Trp | |
| XM_011524856.1:c.5771T>G | XP_011523158.1:p.Leu1924Trp | |
| XM_011524857.1:c.5810T>G | XP_011523159.1:p.Leu1937Trp | |
| NM_001042492.3:c.5780T>G MANE Select | NP_001035957.1:p.Leu1927Trp |