Linked Data
ClinVar Variation Id:
194305
dbSNP Id:
rs142985368
ExAC:
6:152469329 G / C
gnomAD v2:
6-152469329-G-C
gnomAD v3:
6-152148194-G-C
gnomAD v4:
6-152148194-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152148194G>C , CM000668.2:g.152148194G>C | GRCh38 |
| NC_000006.11:g.152469329G>C , CM000668.1:g.152469329G>C | GRCh37 |
| NC_000006.10:g.152511022G>C | NCBI36 |
| NG_012855.1:g.494206C>G | |
| NG_012855.2:g.494206C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1292C>G MANE Plus Clinical | ENSP00000346701.4:p.Ala431Gly | |
| ENST00000367255.10:c.24827C>G MANE Select | ENSP00000356224.5:p.Ala8276Gly | |
| ENST00000423061.6:c.24614C>G | ENSP00000396024.1:p.Ala8205Gly | |
| ENST00000672154.1:c.229C>G | ||
| ENST00000672169.1:c.562C>G | ||
| ENST00000673173.1:c.741C>G | ||
| ENST00000673451.1:c.599C>G | ENSP00000500189.1:p.Ala200Gly | |
| ENST00000341594.9:c.23612C>G | ENSP00000341887.6:p.Ala7871Gly | |
| ENST00000347037.9:n.1506C>G | ||
| ENST00000354674.4:c.1292C>G | ENSP00000346701.4:p.Ala431Gly | |
| ENST00000367251.7:c.3593C>G | ENSP00000356220.3:p.Ala1198Gly | |
| ENST00000367255.9:c.24827C>G | ENSP00000356224.5:p.Ala8276Gly | |
| ENST00000367256.9:n.8519C>G | ||
| ENST00000367257.8:c.2765C>G | ENSP00000356226.4:p.Ala922Gly | |
| ENST00000409694.6:n.8411C>G | ||
| ENST00000423061.5:c.24614C>G | ENSP00000396024.1:p.Ala8205Gly | |
| ENST00000460912.6:n.1372C>G | ||
| ENST00000472563.2:n.215C>G | ||
| ENST00000536990.5:n.1664C>G | ||
| ENST00000539504.5:c.1292C>G | ENSP00000441052.1:p.Ala431Gly | |
| NM_033071.3:c.24614C>G | NP_149062.1:p.Ala8205Gly | |
| NM_182961.3:c.24827C>G | NP_892006.3:p.Ala8276Gly | |
| XM_006715407.1:c.24863C>G | XP_006715470.1:p.Ala8288Gly | |
| XM_006715408.1:c.24851C>G | XP_006715471.1:p.Ala8284Gly | |
| XM_006715409.1:c.24842C>G | XP_006715472.1:p.Ala8281Gly | |
| XM_006715410.1:c.24863C>G | XP_006715473.1:p.Ala8288Gly | |
| XM_006715411.1:c.24812C>G | XP_006715474.1:p.Ala8271Gly | |
| XM_006715412.1:c.24848C>G | XP_006715475.1:p.Ala8283Gly | |
| XM_006715413.1:c.24863C>G | XP_006715476.1:p.Ala8288Gly | |
| XM_006715414.1:c.24791C>G | XP_006715477.1:p.Ala8264Gly | |
| XM_006715415.1:c.24863C>G | XP_006715478.1:p.Ala8288Gly | |
| XM_006715416.1:c.24848C>G | XP_006715479.1:p.Ala8283Gly | |
| XM_006715417.1:c.24722C>G | XP_006715480.1:p.Ala8241Gly | |
| XM_006715420.1:c.24710C>G | XP_006715483.1:p.Ala8237Gly | |
| XM_006715421.1:c.24707C>G | XP_006715484.1:p.Ala8236Gly | |
| XM_006715422.1:c.24704C>G | XP_006715485.1:p.Ala8235Gly | |
| XM_006715423.1:c.24863C>G | XP_006715486.1:p.Ala8288Gly | |
| XM_006715424.1:c.24863C>G | XP_006715487.1:p.Ala8288Gly | |
| XM_006715425.1:c.24863C>G | XP_006715488.1:p.Ala8288Gly | |
| XM_011535641.1:c.24860C>G | XP_011533943.1:p.Ala8287Gly | |
| XM_011535642.1:c.24848C>G | XP_011533944.1:p.Ala8283Gly | |
| XM_011535643.1:c.24698C>G | XP_011533945.1:p.Ala8233Gly | |
| XM_011535644.1:c.23138C>G | XP_011533946.1:p.Ala7713Gly | |
| XM_011535645.1:c.22631C>G | XP_011533947.1:p.Ala7544Gly | |
| XM_011535647.1:c.18098C>G | XP_011533949.1:p.Ala6033Gly | |
| NM_001347701.1:c.1433C>G | NP_001334630.1:p.Ala478Gly | |
| NM_001347702.1:c.1292C>G | NP_001334631.1:p.Ala431Gly | |
| XM_006715408.2:c.24851C>G | XP_006715471.1:p.Ala8284Gly | |
| XM_006715410.2:c.24863C>G | XP_006715473.1:p.Ala8288Gly | |
| XM_006715412.2:c.24848C>G | XP_006715475.1:p.Ala8283Gly | |
| XM_006715413.2:c.24863C>G | XP_006715476.1:p.Ala8288Gly | |
| XM_006715415.2:c.24863C>G | XP_006715478.1:p.Ala8288Gly | |
| XM_006715416.2:c.24848C>G | XP_006715479.1:p.Ala8283Gly | |
| XM_006715417.2:c.24722C>G | XP_006715480.1:p.Ala8241Gly | |
| XM_006715420.2:c.24710C>G | XP_006715483.1:p.Ala8237Gly | |
| XM_006715421.2:c.24707C>G | XP_006715484.1:p.Ala8236Gly | |
| XM_006715423.2:c.24863C>G | XP_006715486.1:p.Ala8288Gly | |
| XM_006715424.2:c.24863C>G | XP_006715487.1:p.Ala8288Gly | |
| XM_006715425.2:c.24863C>G | XP_006715488.1:p.Ala8288Gly | |
| XM_011535641.2:c.24860C>G | XP_011533943.1:p.Ala8287Gly | |
| XM_011535642.2:c.24848C>G | XP_011533944.1:p.Ala8283Gly | |
| XM_011535645.2:c.22631C>G | XP_011533947.1:p.Ala7544Gly | |
| XM_017010608.1:c.24863C>G | XP_016866097.1:p.Ala8288Gly | |
| XM_017010609.1:c.24863C>G | XP_016866098.1:p.Ala8288Gly | |
| XM_017010610.1:c.24842C>G | XP_016866099.1:p.Ala8281Gly | |
| XM_017010611.2:c.24836C>G | XP_016866100.1:p.Ala8279Gly | |
| XM_017010612.1:c.24785C>G | XP_016866101.1:p.Ala8262Gly | |
| XM_017010613.1:c.24860C>G | XP_016866102.1:p.Ala8287Gly | |
| XM_017010614.1:c.24707C>G | XP_016866103.1:p.Ala8236Gly | |
| XM_017010615.1:c.24707C>G | XP_016866104.1:p.Ala8236Gly | |
| XM_017010616.1:c.24863C>G | XP_016866105.1:p.Ala8288Gly | |
| XM_017010617.1:c.24860C>G | XP_016866106.1:p.Ala8287Gly | |
| XM_017010618.1:c.24848C>G | XP_016866107.1:p.Ala8283Gly | |
| XM_017010619.1:c.23138C>G | XP_016866108.1:p.Ala7713Gly | |
| NM_182961.4:c.24827C>G MANE Select | NP_892006.3:p.Ala8276Gly | |
| NM_001347701.2:c.1433C>G | NP_001334630.1:p.Ala478Gly | |
| NM_001347702.2:c.1292C>G MANE Plus Clinical | NP_001334631.1:p.Ala431Gly | |
| NM_033071.5:c.24614C>G | NP_149062.2:p.Ala8205Gly |