Linked Data
ClinVar Variation Id:
1447859
ClinVar RCV Id:
RCV001979979
dbSNP Id:
rs966974831
gnomAD v2:
22-33700444-G-C
gnomAD v3:
22-33304458-G-C
gnomAD v4:
22-33304458-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.33304458G>C , CM000684.2:g.33304458G>C | GRCh38 |
| NC_000022.10:g.33700444G>C , CM000684.1:g.33700444G>C | GRCh37 |
| NC_000022.9:g.32030444G>C | NCBI36 |
| NG_009929.2:g.620971C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354992.7:c.1501C>G | ENSP00000347088.2:p.Leu501Val | |
| ENST00000397394.8:c.1501C>G MANE Select | ENSP00000380549.2:p.Leu501Val | |
| ENST00000402320.6:c.1345C>G | ENSP00000385223.1:p.Leu449Val | |
| ENST00000413114.6:c.1501C>G | ENSP00000415546.2:p.Leu501Val | |
| ENST00000608642.6:c.1501C>G | ENSP00000476866.2:p.Leu501Val | |
| ENST00000609799.6:c.1451+11627C>G | ENSP00000476415.2:n.1451+11627C>G | |
| ENST00000610186.6:c.1501C>G | ENSP00000476364.2:p.Leu501Val | |
| ENST00000674543.1:c.1501C>G | ENSP00000501590.1:p.Leu501Val | |
| ENST00000674668.1:c.1375C>G | ENSP00000502103.1:p.Leu459Val | |
| ENST00000674708.1:n.1159C>G | ||
| ENST00000674780.1:c.898C>G | ENSP00000502772.1:p.Leu300Val | |
| ENST00000674789.1:c.1501C>G | ENSP00000501941.1:p.Leu501Val | |
| ENST00000674816.1:n.1309C>G | ||
| ENST00000674999.1:c.1297C>G | ENSP00000502711.1:p.Leu433Val | |
| ENST00000675277.1:c.1297C>G | ENSP00000502702.1:p.Leu433Val | |
| ENST00000675382.1:c.1337C>G | ENSP00000501800.1:p.Pro446Arg | |
| ENST00000675416.1:c.1501C>G | ENSP00000502826.1:p.Leu501Val | |
| ENST00000676031.1:c.*83C>G | ENSP00000501663.1:n.*83C>G | |
| ENST00000676070.1:c.1501C>G | ENSP00000502152.1:p.Leu501Val | |
| ENST00000676126.1:c.1451+11627C>G | ENSP00000501966.1:n.1451+11627C>G | |
| ENST00000676132.1:c.1501C>G | ENSP00000501854.1:p.Leu501Val | |
| ENST00000676370.1:c.1501C>G | ENSP00000502238.1:p.Leu501Val | |
| ENST00000354992.6:c.1501C>G | ENSP00000347088.2:p.Leu501Val | |
| ENST00000397394.6:c.1501C>G | ENSP00000380549.2:p.Leu501Val | |
| ENST00000402320.5:c.1345C>G | ENSP00000385223.1:p.Leu449Val | |
| ENST00000608642.5:c.532C>G | ENSP00000476866.1:p.Leu178Val | |
| ENST00000609799.5:c.482+11627C>G | ENSP00000476415.1:n.482+11627C>G | |
| ENST00000610186.5:c.532C>G | ENSP00000476364.1:p.Leu178Val | |
| NM_004737.4:c.1501C>G | NP_004728.1:p.Leu501Val | |
| NM_133642.3:c.1501C>G | NP_598397.1:p.Leu501Val | |
| XM_005261831.2:c.1501C>G | XP_005261888.1:p.Leu501Val | |
| XM_005261832.2:c.1501C>G | XP_005261889.1:p.Leu501Val | |
| XM_011530510.1:c.1501C>G | XP_011528812.1:p.Leu501Val | |
| XM_011530511.1:c.1451+11627C>G | XP_011528813.1:n.1451+11627C>G | |
| XM_011530512.1:c.898C>G | XP_011528814.1:p.Leu300Val | |
| XM_011530513.1:c.403C>G | XP_011528815.1:p.Leu135Val | |
| NM_001362949.1:c.1501C>G | NP_001349878.1:p.Leu501Val | |
| NM_001362951.1:c.1501C>G | NP_001349880.1:p.Leu501Val | |
| NM_001362953.1:c.1501C>G | NP_001349882.1:p.Leu501Val | |
| NM_004737.6:c.1501C>G | NP_004728.1:p.Leu501Val | |
| NM_133642.4:c.1501C>G | NP_598397.1:p.Leu501Val | |
| XM_005261831.3:c.1501C>G | XP_005261888.1:p.Leu501Val | |
| XM_005261832.3:c.1501C>G | XP_005261889.1:p.Leu501Val | |
| XM_011530512.2:c.898C>G | XP_011528814.1:p.Leu300Val | |
| XM_011530513.2:c.403C>G | XP_011528815.1:p.Leu135Val | |
| XM_024452302.1:c.1501C>G | XP_024308070.1:p.Leu501Val | |
| XR_002958722.1:n.1548C>G | ||
| NM_001362949.2:c.1501C>G | NP_001349878.1:p.Leu501Val | |
| NM_001362951.2:c.1501C>G | NP_001349880.1:p.Leu501Val | |
| NM_001362953.2:c.1501C>G | NP_001349882.1:p.Leu501Val | |
| NM_001378624.1:c.1501C>G | NP_001365553.1:p.Leu501Val | |
| NM_001378625.1:c.1501C>G | NP_001365554.1:p.Leu501Val | |
| NM_001378626.1:c.1501C>G | NP_001365555.1:p.Leu501Val | |
| NM_001378627.1:c.1501C>G | NP_001365556.1:p.Leu501Val | |
| NM_001378628.1:c.1501C>G | NP_001365557.1:p.Leu501Val | |
| NM_001378629.1:c.1345C>G | NP_001365558.1:p.Leu449Val | |
| NM_001378630.1:c.898C>G | NP_001365559.1:p.Leu300Val | |
| NM_001378631.1:c.742C>G | NP_001365560.1:p.Leu248Val | |
| NM_004737.7:c.1501C>G | NP_004728.1:p.Leu501Val | |
| NM_133642.5:c.1501C>G MANE Select | NP_598397.1:p.Leu501Val |