Linked Data
ClinVar Variation Id:
384884
dbSNP Id:
rs201344762
ExAC:
6:152457783 G / A
gnomAD v2:
6-152457783-G-A
gnomAD v3:
6-152136648-G-A
gnomAD v4:
6-152136648-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152136648G>A , CM000668.2:g.152136648G>A | GRCh38 |
| NC_000006.11:g.152457783G>A , CM000668.1:g.152457783G>A | GRCh37 |
| NC_000006.10:g.152499476G>A | NCBI36 |
| NG_012855.1:g.505752C>T | |
| NG_012855.2:g.505752C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2163C>T MANE Plus Clinical | ENSP00000346701.4:p.Gly721= | |
| ENST00000367255.10:c.25629C>T MANE Select | ENSP00000356224.5:p.Gly8543= | |
| ENST00000423061.6:c.25485C>T | ENSP00000396024.1:p.Gly8495= | |
| ENST00000672154.1:c.1031C>T | ||
| ENST00000672169.1:c.1364C>T | ||
| ENST00000673173.1:c.1273C>T | ||
| ENST00000673451.1:c.1401C>T | ENSP00000500189.1:p.Gly467= | |
| ENST00000341594.9:c.24414C>T | ENSP00000341887.6:p.Gly8138= | |
| ENST00000347037.9:n.2377C>T | ||
| ENST00000354674.4:c.2163C>T | ENSP00000346701.4:p.Gly721= | |
| ENST00000367251.7:c.4464C>T | ENSP00000356220.3:p.Gly1488= | |
| ENST00000367255.9:c.25629C>T | ENSP00000356224.5:p.Gly8543= | |
| ENST00000367256.9:n.9321C>T | ||
| ENST00000367257.8:c.3567C>T | ENSP00000356226.4:p.Gly1189= | |
| ENST00000409694.6:n.9213C>T | ||
| ENST00000423061.5:c.25485C>T | ENSP00000396024.1:p.Gly8495= | |
| ENST00000460912.6:n.2243C>T | ||
| ENST00000478916.5:n.4651C>T | ||
| ENST00000536990.5:n.2466C>T | ||
| ENST00000539504.5:c.2094C>T | ENSP00000441052.1:p.Gly698= | |
| NM_033071.3:c.25485C>T | NP_149062.1:p.Gly8495= | |
| NM_182961.3:c.25629C>T | NP_892006.3:p.Gly8543= | |
| XM_006715407.1:c.25734C>T | XP_006715470.1:p.Gly8578= | |
| XM_006715408.1:c.25722C>T | XP_006715471.1:p.Gly8574= | |
| XM_006715409.1:c.25713C>T | XP_006715472.1:p.Gly8571= | |
| XM_006715410.1:c.25734C>T | XP_006715473.1:p.Gly8578= | |
| XM_006715411.1:c.25683C>T | XP_006715474.1:p.Gly8561= | |
| XM_006715412.1:c.25719C>T | XP_006715475.1:p.Gly8573= | |
| XM_006715413.1:c.25665C>T | XP_006715476.1:p.Gly8555= | |
| XM_006715414.1:c.25662C>T | XP_006715477.1:p.Gly8554= | |
| XM_006715415.1:c.25665C>T | XP_006715478.1:p.Gly8555= | |
| XM_006715416.1:c.25650C>T | XP_006715479.1:p.Gly8550= | |
| XM_006715417.1:c.25593C>T | XP_006715480.1:p.Gly8531= | |
| XM_006715420.1:c.25581C>T | XP_006715483.1:p.Gly8527= | |
| XM_006715421.1:c.25578C>T | XP_006715484.1:p.Gly8526= | |
| XM_006715422.1:c.25575C>T | XP_006715485.1:p.Gly8525= | |
| XM_006715423.1:c.25734C>T | XP_006715486.1:p.Gly8578= | |
| XM_006715424.1:c.25734C>T | XP_006715487.1:p.Gly8578= | |
| XM_006715425.1:c.25665C>T | XP_006715488.1:p.Gly8555= | |
| XM_011535641.1:c.25731C>T | XP_011533943.1:p.Gly8577= | |
| XM_011535642.1:c.25719C>T | XP_011533944.1:p.Gly8573= | |
| XM_011535643.1:c.25569C>T | XP_011533945.1:p.Gly8523= | |
| XM_011535644.1:c.24009C>T | XP_011533946.1:p.Gly8003= | |
| XM_011535645.1:c.23502C>T | XP_011533947.1:p.Gly7834= | |
| XM_011535647.1:c.18969C>T | XP_011533949.1:p.Gly6323= | |
| NM_001347701.1:c.2235C>T | NP_001334630.1:p.Gly745= | |
| NM_001347702.1:c.2163C>T | NP_001334631.1:p.Gly721= | |
| XM_006715408.2:c.25722C>T | XP_006715471.1:p.Gly8574= | |
| XM_006715410.2:c.25734C>T | XP_006715473.1:p.Gly8578= | |
| XM_006715412.2:c.25719C>T | XP_006715475.1:p.Gly8573= | |
| XM_006715413.2:c.25665C>T | XP_006715476.1:p.Gly8555= | |
| XM_006715415.2:c.25665C>T | XP_006715478.1:p.Gly8555= | |
| XM_006715416.2:c.25650C>T | XP_006715479.1:p.Gly8550= | |
| XM_006715417.2:c.25593C>T | XP_006715480.1:p.Gly8531= | |
| XM_006715420.2:c.25581C>T | XP_006715483.1:p.Gly8527= | |
| XM_006715421.2:c.25578C>T | XP_006715484.1:p.Gly8526= | |
| XM_006715423.2:c.25734C>T | XP_006715486.1:p.Gly8578= | |
| XM_006715424.2:c.25734C>T | XP_006715487.1:p.Gly8578= | |
| XM_006715425.2:c.25665C>T | XP_006715488.1:p.Gly8555= | |
| XM_011535641.2:c.25731C>T | XP_011533943.1:p.Gly8577= | |
| XM_011535642.2:c.25719C>T | XP_011533944.1:p.Gly8573= | |
| XM_011535645.2:c.23502C>T | XP_011533947.1:p.Gly7834= | |
| XM_017010608.1:c.25734C>T | XP_016866097.1:p.Gly8578= | |
| XM_017010609.1:c.25734C>T | XP_016866098.1:p.Gly8578= | |
| XM_017010610.1:c.25713C>T | XP_016866099.1:p.Gly8571= | |
| XM_017010611.2:c.25707C>T | XP_016866100.1:p.Gly8569= | |
| XM_017010612.1:c.25656C>T | XP_016866101.1:p.Gly8552= | |
| XM_017010613.1:c.25662C>T | XP_016866102.1:p.Gly8554= | |
| XM_017010614.1:c.25578C>T | XP_016866103.1:p.Gly8526= | |
| XM_017010615.1:c.25509C>T | XP_016866104.1:p.Gly8503= | |
| XM_017010616.1:c.25665C>T | XP_016866105.1:p.Gly8555= | |
| XM_017010617.1:c.25662C>T | XP_016866106.1:p.Gly8554= | |
| XM_017010618.1:c.25650C>T | XP_016866107.1:p.Gly8550= | |
| XM_017010619.1:c.24009C>T | XP_016866108.1:p.Gly8003= | |
| NM_182961.4:c.25629C>T MANE Select | NP_892006.3:p.Gly8543= | |
| NM_001347701.2:c.2235C>T | NP_001334630.1:p.Gly745= | |
| NM_001347702.2:c.2163C>T MANE Plus Clinical | NP_001334631.1:p.Gly721= | |
| NM_033071.5:c.25485C>T | NP_149062.2:p.Gly8495= |