Linked Data
ClinVar Variation Id:
285600
dbSNP Id:
rs138307449
ExAC:
6:152651440 G / A
gnomAD v2:
6-152651440-G-A
gnomAD v3:
6-152330305-G-A
gnomAD v4:
6-152330305-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152330305G>A , CM000668.2:g.152330305G>A | GRCh38 |
| NC_000006.11:g.152651440G>A , CM000668.1:g.152651440G>A | GRCh37 |
| NC_000006.10:g.152693133G>A | NCBI36 |
| NG_012855.1:g.312095C>T | |
| NG_012855.2:g.312095C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.14380C>T MANE Select | ENSP00000356224.5:p.Leu4794= | |
| ENST00000423061.6:c.14167C>T | ENSP00000396024.1:p.Leu4723= | |
| ENST00000341594.9:c.13570C>T | ENSP00000341887.6:p.Leu4524= | |
| ENST00000367255.9:c.14380C>T | ENSP00000356224.5:p.Leu4794= | |
| ENST00000423061.5:c.14167C>T | ENSP00000396024.1:p.Leu4723= | |
| ENST00000448038.2:c.-1539C>T | ENSP00000390975.2:n.-1539C>T | |
| ENST00000490135.6:n.1726C>T | ||
| NM_033071.3:c.14167C>T | NP_149062.1:p.Leu4723= | |
| NM_182961.3:c.14380C>T | NP_892006.3:p.Leu4794= | |
| XM_006715407.1:c.14401C>T | XP_006715470.1:p.Leu4801= | |
| XM_006715408.1:c.14401C>T | XP_006715471.1:p.Leu4801= | |
| XM_006715409.1:c.14380C>T | XP_006715472.1:p.Leu4794= | |
| XM_006715410.1:c.14401C>T | XP_006715473.1:p.Leu4801= | |
| XM_006715411.1:c.14350C>T | XP_006715474.1:p.Leu4784= | |
| XM_006715412.1:c.14401C>T | XP_006715475.1:p.Leu4801= | |
| XM_006715413.1:c.14401C>T | XP_006715476.1:p.Leu4801= | |
| XM_006715414.1:c.14329C>T | XP_006715477.1:p.Leu4777= | |
| XM_006715415.1:c.14401C>T | XP_006715478.1:p.Leu4801= | |
| XM_006715416.1:c.14401C>T | XP_006715479.1:p.Leu4801= | |
| XM_006715417.1:c.14401C>T | XP_006715480.1:p.Leu4801= | |
| XM_006715420.1:c.14401C>T | XP_006715483.1:p.Leu4801= | |
| XM_006715421.1:c.14245C>T | XP_006715484.1:p.Leu4749= | |
| XM_006715422.1:c.14242C>T | XP_006715485.1:p.Leu4748= | |
| XM_006715423.1:c.14401C>T | XP_006715486.1:p.Leu4801= | |
| XM_006715424.1:c.14401C>T | XP_006715487.1:p.Leu4801= | |
| XM_006715425.1:c.14401C>T | XP_006715488.1:p.Leu4801= | |
| XM_011535641.1:c.14401C>T | XP_011533943.1:p.Leu4801= | |
| XM_011535642.1:c.14401C>T | XP_011533944.1:p.Leu4801= | |
| XM_011535643.1:c.14236C>T | XP_011533945.1:p.Leu4746= | |
| XM_011535644.1:c.12676C>T | XP_011533946.1:p.Leu4226= | |
| XM_011535645.1:c.12169C>T | XP_011533947.1:p.Leu4057= | |
| XM_011535646.1:c.14401C>T | XP_011533948.1:p.Leu4801= | |
| XM_011535647.1:c.7636C>T | XP_011533949.1:p.Leu2546= | |
| XM_006715408.2:c.14401C>T | XP_006715471.1:p.Leu4801= | |
| XM_006715410.2:c.14401C>T | XP_006715473.1:p.Leu4801= | |
| XM_006715412.2:c.14401C>T | XP_006715475.1:p.Leu4801= | |
| XM_006715413.2:c.14401C>T | XP_006715476.1:p.Leu4801= | |
| XM_006715415.2:c.14401C>T | XP_006715478.1:p.Leu4801= | |
| XM_006715416.2:c.14401C>T | XP_006715479.1:p.Leu4801= | |
| XM_006715417.2:c.14401C>T | XP_006715480.1:p.Leu4801= | |
| XM_006715420.2:c.14401C>T | XP_006715483.1:p.Leu4801= | |
| XM_006715421.2:c.14245C>T | XP_006715484.1:p.Leu4749= | |
| XM_006715423.2:c.14401C>T | XP_006715486.1:p.Leu4801= | |
| XM_006715424.2:c.14401C>T | XP_006715487.1:p.Leu4801= | |
| XM_006715425.2:c.14401C>T | XP_006715488.1:p.Leu4801= | |
| XM_011535641.2:c.14401C>T | XP_011533943.1:p.Leu4801= | |
| XM_011535642.2:c.14401C>T | XP_011533944.1:p.Leu4801= | |
| XM_011535645.2:c.12169C>T | XP_011533947.1:p.Leu4057= | |
| XM_017010608.1:c.14401C>T | XP_016866097.1:p.Leu4801= | |
| XM_017010609.1:c.14401C>T | XP_016866098.1:p.Leu4801= | |
| XM_017010610.1:c.14380C>T | XP_016866099.1:p.Leu4794= | |
| XM_017010611.2:c.14374C>T | XP_016866100.1:p.Leu4792= | |
| XM_017010612.1:c.14323C>T | XP_016866101.1:p.Leu4775= | |
| XM_017010613.1:c.14401C>T | XP_016866102.1:p.Leu4801= | |
| XM_017010614.1:c.14401C>T | XP_016866103.1:p.Leu4801= | |
| XM_017010615.1:c.14401C>T | XP_016866104.1:p.Leu4801= | |
| XM_017010616.1:c.14401C>T | XP_016866105.1:p.Leu4801= | |
| XM_017010617.1:c.14401C>T | XP_016866106.1:p.Leu4801= | |
| XM_017010618.1:c.14401C>T | XP_016866107.1:p.Leu4801= | |
| XM_017010619.1:c.12676C>T | XP_016866108.1:p.Leu4226= | |
| XR_001743287.1:n.14884C>T | ||
| NM_182961.4:c.14380C>T MANE Select | NP_892006.3:p.Leu4794= | |
| NM_033071.5:c.14167C>T | NP_149062.2:p.Leu4723= |