Linked Data
ClinVar Variation Id:
355844
dbSNP Id:
rs141934037
ExAC:
6:152577874 C / G
gnomAD v2:
6-152577874-C-G
gnomAD v3:
6-152256739-C-G
gnomAD v4:
6-152256739-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152256739C>G , CM000668.2:g.152256739C>G | GRCh38 |
| NC_000006.11:g.152577874C>G , CM000668.1:g.152577874C>G | GRCh37 |
| NC_000006.10:g.152619567C>G | NCBI36 |
| NG_012855.1:g.385661G>C | |
| NG_012855.2:g.385661G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.18999G>C MANE Select | ENSP00000356224.5:p.Leu6333Phe | |
| ENST00000423061.6:c.18786G>C | ENSP00000396024.1:p.Leu6262Phe | |
| ENST00000341594.9:c.17784G>C | ENSP00000341887.6:p.Leu5928Phe | |
| ENST00000367255.9:c.18999G>C | ENSP00000356224.5:p.Leu6333Phe | |
| ENST00000367256.9:n.2691G>C | ||
| ENST00000409694.6:n.2583G>C | ||
| ENST00000423061.5:c.18786G>C | ENSP00000396024.1:p.Leu6262Phe | |
| ENST00000545694.1:n.300G>C | ||
| NM_033071.3:c.18786G>C | NP_149062.1:p.Leu6262Phe | |
| NM_182961.3:c.18999G>C | NP_892006.3:p.Leu6333Phe | |
| XM_006715407.1:c.19035G>C | XP_006715470.1:p.Leu6345Phe | |
| XM_006715408.1:c.19023G>C | XP_006715471.1:p.Leu6341Phe | |
| XM_006715409.1:c.19014G>C | XP_006715472.1:p.Leu6338Phe | |
| XM_006715410.1:c.19035G>C | XP_006715473.1:p.Leu6345Phe | |
| XM_006715411.1:c.18984G>C | XP_006715474.1:p.Leu6328Phe | |
| XM_006715412.1:c.19020G>C | XP_006715475.1:p.Leu6340Phe | |
| XM_006715413.1:c.19035G>C | XP_006715476.1:p.Leu6345Phe | |
| XM_006715414.1:c.18963G>C | XP_006715477.1:p.Leu6321Phe | |
| XM_006715415.1:c.19035G>C | XP_006715478.1:p.Leu6345Phe | |
| XM_006715416.1:c.19020G>C | XP_006715479.1:p.Leu6340Phe | |
| XM_006715417.1:c.18894G>C | XP_006715480.1:p.Leu6298Phe | |
| XM_006715420.1:c.18882G>C | XP_006715483.1:p.Leu6294Phe | |
| XM_006715421.1:c.18879G>C | XP_006715484.1:p.Leu6293Phe | |
| XM_006715422.1:c.18876G>C | XP_006715485.1:p.Leu6292Phe | |
| XM_006715423.1:c.19035G>C | XP_006715486.1:p.Leu6345Phe | |
| XM_006715424.1:c.19035G>C | XP_006715487.1:p.Leu6345Phe | |
| XM_006715425.1:c.19035G>C | XP_006715488.1:p.Leu6345Phe | |
| XM_011535641.1:c.19032G>C | XP_011533943.1:p.Leu6344Phe | |
| XM_011535642.1:c.19020G>C | XP_011533944.1:p.Leu6340Phe | |
| XM_011535643.1:c.18870G>C | XP_011533945.1:p.Leu6290Phe | |
| XM_011535644.1:c.17310G>C | XP_011533946.1:p.Leu5770Phe | |
| XM_011535645.1:c.16803G>C | XP_011533947.1:p.Leu5601Phe | |
| XM_011535646.1:c.19035G>C | XP_011533948.1:p.Leu6345Phe | |
| XM_011535647.1:c.12270G>C | XP_011533949.1:p.Leu4090Phe | |
| XM_006715408.2:c.19023G>C | XP_006715471.1:p.Leu6341Phe | |
| XM_006715410.2:c.19035G>C | XP_006715473.1:p.Leu6345Phe | |
| XM_006715412.2:c.19020G>C | XP_006715475.1:p.Leu6340Phe | |
| XM_006715413.2:c.19035G>C | XP_006715476.1:p.Leu6345Phe | |
| XM_006715415.2:c.19035G>C | XP_006715478.1:p.Leu6345Phe | |
| XM_006715416.2:c.19020G>C | XP_006715479.1:p.Leu6340Phe | |
| XM_006715417.2:c.18894G>C | XP_006715480.1:p.Leu6298Phe | |
| XM_006715420.2:c.18882G>C | XP_006715483.1:p.Leu6294Phe | |
| XM_006715421.2:c.18879G>C | XP_006715484.1:p.Leu6293Phe | |
| XM_006715423.2:c.19035G>C | XP_006715486.1:p.Leu6345Phe | |
| XM_006715424.2:c.19035G>C | XP_006715487.1:p.Leu6345Phe | |
| XM_006715425.2:c.19035G>C | XP_006715488.1:p.Leu6345Phe | |
| XM_011535641.2:c.19032G>C | XP_011533943.1:p.Leu6344Phe | |
| XM_011535642.2:c.19020G>C | XP_011533944.1:p.Leu6340Phe | |
| XM_011535645.2:c.16803G>C | XP_011533947.1:p.Leu5601Phe | |
| XM_017010608.1:c.19035G>C | XP_016866097.1:p.Leu6345Phe | |
| XM_017010609.1:c.19035G>C | XP_016866098.1:p.Leu6345Phe | |
| XM_017010610.1:c.19014G>C | XP_016866099.1:p.Leu6338Phe | |
| XM_017010611.2:c.19008G>C | XP_016866100.1:p.Leu6336Phe | |
| XM_017010612.1:c.18957G>C | XP_016866101.1:p.Leu6319Phe | |
| XM_017010613.1:c.19032G>C | XP_016866102.1:p.Leu6344Phe | |
| XM_017010614.1:c.18879G>C | XP_016866103.1:p.Leu6293Phe | |
| XM_017010615.1:c.18879G>C | XP_016866104.1:p.Leu6293Phe | |
| XM_017010616.1:c.19035G>C | XP_016866105.1:p.Leu6345Phe | |
| XM_017010617.1:c.19032G>C | XP_016866106.1:p.Leu6344Phe | |
| XM_017010618.1:c.19020G>C | XP_016866107.1:p.Leu6340Phe | |
| XM_017010619.1:c.17310G>C | XP_016866108.1:p.Leu5770Phe | |
| XR_001743287.1:n.19518G>C | ||
| NM_182961.4:c.18999G>C MANE Select | NP_892006.3:p.Leu6333Phe | |
| NM_033071.5:c.18786G>C | NP_149062.2:p.Leu6262Phe |