Linked Data
ClinVar Variation Id:
288662
dbSNP Id:
rs144459490
ExAC:
6:152457897 G / A
gnomAD v2:
6-152457897-G-A
gnomAD v3:
6-152136762-G-A
gnomAD v4:
6-152136762-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152136762G>A , CM000668.2:g.152136762G>A | GRCh38 |
| NC_000006.11:g.152457897G>A , CM000668.1:g.152457897G>A | GRCh37 |
| NC_000006.10:g.152499590G>A | NCBI36 |
| NG_012855.1:g.505638C>T | |
| NG_012855.2:g.505638C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2049C>T MANE Plus Clinical | ENSP00000346701.4:p.Cys683= | |
| ENST00000367255.10:c.25515C>T MANE Select | ENSP00000356224.5:p.Cys8505= | |
| ENST00000423061.6:c.25371C>T | ENSP00000396024.1:p.Cys8457= | |
| ENST00000672154.1:c.917C>T | ||
| ENST00000672169.1:c.1250C>T | ||
| ENST00000673173.1:c.1159C>T | ||
| ENST00000673451.1:c.1287C>T | ENSP00000500189.1:p.Cys429= | |
| ENST00000341594.9:c.24300C>T | ENSP00000341887.6:p.Cys8100= | |
| ENST00000347037.9:n.2263C>T | ||
| ENST00000354674.4:c.2049C>T | ENSP00000346701.4:p.Cys683= | |
| ENST00000367251.7:c.4350C>T | ENSP00000356220.3:p.Cys1450= | |
| ENST00000367255.9:c.25515C>T | ENSP00000356224.5:p.Cys8505= | |
| ENST00000367256.9:n.9207C>T | ||
| ENST00000367257.8:c.3453C>T | ENSP00000356226.4:p.Cys1151= | |
| ENST00000409694.6:n.9099C>T | ||
| ENST00000423061.5:c.25371C>T | ENSP00000396024.1:p.Cys8457= | |
| ENST00000460912.6:n.2129C>T | ||
| ENST00000478916.5:n.4537C>T | ||
| ENST00000536990.5:n.2352C>T | ||
| ENST00000539504.5:c.1980C>T | ENSP00000441052.1:p.Cys660= | |
| NM_033071.3:c.25371C>T | NP_149062.1:p.Cys8457= | |
| NM_182961.3:c.25515C>T | NP_892006.3:p.Cys8505= | |
| XM_006715407.1:c.25620C>T | XP_006715470.1:p.Cys8540= | |
| XM_006715408.1:c.25608C>T | XP_006715471.1:p.Cys8536= | |
| XM_006715409.1:c.25599C>T | XP_006715472.1:p.Cys8533= | |
| XM_006715410.1:c.25620C>T | XP_006715473.1:p.Cys8540= | |
| XM_006715411.1:c.25569C>T | XP_006715474.1:p.Cys8523= | |
| XM_006715412.1:c.25605C>T | XP_006715475.1:p.Cys8535= | |
| XM_006715413.1:c.25551C>T | XP_006715476.1:p.Cys8517= | |
| XM_006715414.1:c.25548C>T | XP_006715477.1:p.Cys8516= | |
| XM_006715415.1:c.25551C>T | XP_006715478.1:p.Cys8517= | |
| XM_006715416.1:c.25536C>T | XP_006715479.1:p.Cys8512= | |
| XM_006715417.1:c.25479C>T | XP_006715480.1:p.Cys8493= | |
| XM_006715420.1:c.25467C>T | XP_006715483.1:p.Cys8489= | |
| XM_006715421.1:c.25464C>T | XP_006715484.1:p.Cys8488= | |
| XM_006715422.1:c.25461C>T | XP_006715485.1:p.Cys8487= | |
| XM_006715423.1:c.25620C>T | XP_006715486.1:p.Cys8540= | |
| XM_006715424.1:c.25620C>T | XP_006715487.1:p.Cys8540= | |
| XM_006715425.1:c.25551C>T | XP_006715488.1:p.Cys8517= | |
| XM_011535641.1:c.25617C>T | XP_011533943.1:p.Cys8539= | |
| XM_011535642.1:c.25605C>T | XP_011533944.1:p.Cys8535= | |
| XM_011535643.1:c.25455C>T | XP_011533945.1:p.Cys8485= | |
| XM_011535644.1:c.23895C>T | XP_011533946.1:p.Cys7965= | |
| XM_011535645.1:c.23388C>T | XP_011533947.1:p.Cys7796= | |
| XM_011535647.1:c.18855C>T | XP_011533949.1:p.Cys6285= | |
| NM_001347701.1:c.2121C>T | NP_001334630.1:p.Cys707= | |
| NM_001347702.1:c.2049C>T | NP_001334631.1:p.Cys683= | |
| XM_006715408.2:c.25608C>T | XP_006715471.1:p.Cys8536= | |
| XM_006715410.2:c.25620C>T | XP_006715473.1:p.Cys8540= | |
| XM_006715412.2:c.25605C>T | XP_006715475.1:p.Cys8535= | |
| XM_006715413.2:c.25551C>T | XP_006715476.1:p.Cys8517= | |
| XM_006715415.2:c.25551C>T | XP_006715478.1:p.Cys8517= | |
| XM_006715416.2:c.25536C>T | XP_006715479.1:p.Cys8512= | |
| XM_006715417.2:c.25479C>T | XP_006715480.1:p.Cys8493= | |
| XM_006715420.2:c.25467C>T | XP_006715483.1:p.Cys8489= | |
| XM_006715421.2:c.25464C>T | XP_006715484.1:p.Cys8488= | |
| XM_006715423.2:c.25620C>T | XP_006715486.1:p.Cys8540= | |
| XM_006715424.2:c.25620C>T | XP_006715487.1:p.Cys8540= | |
| XM_006715425.2:c.25551C>T | XP_006715488.1:p.Cys8517= | |
| XM_011535641.2:c.25617C>T | XP_011533943.1:p.Cys8539= | |
| XM_011535642.2:c.25605C>T | XP_011533944.1:p.Cys8535= | |
| XM_011535645.2:c.23388C>T | XP_011533947.1:p.Cys7796= | |
| XM_017010608.1:c.25620C>T | XP_016866097.1:p.Cys8540= | |
| XM_017010609.1:c.25620C>T | XP_016866098.1:p.Cys8540= | |
| XM_017010610.1:c.25599C>T | XP_016866099.1:p.Cys8533= | |
| XM_017010611.2:c.25593C>T | XP_016866100.1:p.Cys8531= | |
| XM_017010612.1:c.25542C>T | XP_016866101.1:p.Cys8514= | |
| XM_017010613.1:c.25548C>T | XP_016866102.1:p.Cys8516= | |
| XM_017010614.1:c.25464C>T | XP_016866103.1:p.Cys8488= | |
| XM_017010615.1:c.25395C>T | XP_016866104.1:p.Cys8465= | |
| XM_017010616.1:c.25551C>T | XP_016866105.1:p.Cys8517= | |
| XM_017010617.1:c.25548C>T | XP_016866106.1:p.Cys8516= | |
| XM_017010618.1:c.25536C>T | XP_016866107.1:p.Cys8512= | |
| XM_017010619.1:c.23895C>T | XP_016866108.1:p.Cys7965= | |
| NM_182961.4:c.25515C>T MANE Select | NP_892006.3:p.Cys8505= | |
| NM_001347701.2:c.2121C>T | NP_001334630.1:p.Cys707= | |
| NM_001347702.2:c.2049C>T MANE Plus Clinical | NP_001334631.1:p.Cys683= | |
| NM_033071.5:c.25371C>T | NP_149062.2:p.Cys8457= |