Linked Data
dbSNP Id:
rs1339186976
gnomAD v2:
6-152461183-C-T
gnomAD v3:
6-152140048-C-T
gnomAD v4:
6-152140048-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152140048C>T , CM000668.2:g.152140048C>T | GRCh38 |
| NC_000006.11:g.152461183C>T , CM000668.1:g.152461183C>T | GRCh37 |
| NC_000006.10:g.152502876C>T | NCBI36 |
| NG_012855.1:g.502352G>A | |
| NG_012855.2:g.502352G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1894G>A MANE Plus Clinical | ENSP00000346701.4:p.Ala632Thr | |
| ENST00000367255.10:c.25360G>A MANE Select | ENSP00000356224.5:p.Ala8454Thr | |
| ENST00000423061.6:c.25216G>A | ENSP00000396024.1:p.Ala8406Thr | |
| ENST00000672154.1:c.762G>A | ||
| ENST00000672169.1:c.1095G>A | ||
| ENST00000673173.1:c.1004G>A | ||
| ENST00000673451.1:c.1132G>A | ENSP00000500189.1:p.Ala378Thr | |
| ENST00000341594.9:c.24145G>A | ENSP00000341887.6:p.Ala8049Thr | |
| ENST00000347037.9:n.2108G>A | ||
| ENST00000354674.4:c.1894G>A | ENSP00000346701.4:p.Ala632Thr | |
| ENST00000367251.7:c.4195G>A | ENSP00000356220.3:p.Ala1399Thr | |
| ENST00000367255.9:c.25360G>A | ENSP00000356224.5:p.Ala8454Thr | |
| ENST00000367256.9:n.9052G>A | ||
| ENST00000367257.8:c.3298G>A | ENSP00000356226.4:p.Ala1100Thr | |
| ENST00000409694.6:n.8944G>A | ||
| ENST00000423061.5:c.25216G>A | ENSP00000396024.1:p.Ala8406Thr | |
| ENST00000460912.6:n.1974G>A | ||
| ENST00000478916.5:n.4382G>A | ||
| ENST00000536990.5:n.2197G>A | ||
| ENST00000539504.5:c.1825G>A | ENSP00000441052.1:p.Ala609Thr | |
| NM_033071.3:c.25216G>A | NP_149062.1:p.Ala8406Thr | |
| NM_182961.3:c.25360G>A | NP_892006.3:p.Ala8454Thr | |
| XM_006715407.1:c.25465G>A | XP_006715470.1:p.Ala8489Thr | |
| XM_006715408.1:c.25453G>A | XP_006715471.1:p.Ala8485Thr | |
| XM_006715409.1:c.25444G>A | XP_006715472.1:p.Ala8482Thr | |
| XM_006715410.1:c.25465G>A | XP_006715473.1:p.Ala8489Thr | |
| XM_006715411.1:c.25414G>A | XP_006715474.1:p.Ala8472Thr | |
| XM_006715412.1:c.25450G>A | XP_006715475.1:p.Ala8484Thr | |
| XM_006715413.1:c.25396G>A | XP_006715476.1:p.Ala8466Thr | |
| XM_006715414.1:c.25393G>A | XP_006715477.1:p.Ala8465Thr | |
| XM_006715415.1:c.25396G>A | XP_006715478.1:p.Ala8466Thr | |
| XM_006715416.1:c.25381G>A | XP_006715479.1:p.Ala8461Thr | |
| XM_006715417.1:c.25324G>A | XP_006715480.1:p.Ala8442Thr | |
| XM_006715420.1:c.25312G>A | XP_006715483.1:p.Ala8438Thr | |
| XM_006715421.1:c.25309G>A | XP_006715484.1:p.Ala8437Thr | |
| XM_006715422.1:c.25306G>A | XP_006715485.1:p.Ala8436Thr | |
| XM_006715423.1:c.25465G>A | XP_006715486.1:p.Ala8489Thr | |
| XM_006715424.1:c.25465G>A | XP_006715487.1:p.Ala8489Thr | |
| XM_006715425.1:c.25396G>A | XP_006715488.1:p.Ala8466Thr | |
| XM_011535641.1:c.25462G>A | XP_011533943.1:p.Ala8488Thr | |
| XM_011535642.1:c.25450G>A | XP_011533944.1:p.Ala8484Thr | |
| XM_011535643.1:c.25300G>A | XP_011533945.1:p.Ala8434Thr | |
| XM_011535644.1:c.23740G>A | XP_011533946.1:p.Ala7914Thr | |
| XM_011535645.1:c.23233G>A | XP_011533947.1:p.Ala7745Thr | |
| XM_011535647.1:c.18700G>A | XP_011533949.1:p.Ala6234Thr | |
| NM_001347701.1:c.1966G>A | NP_001334630.1:p.Ala656Thr | |
| NM_001347702.1:c.1894G>A | NP_001334631.1:p.Ala632Thr | |
| XM_006715408.2:c.25453G>A | XP_006715471.1:p.Ala8485Thr | |
| XM_006715410.2:c.25465G>A | XP_006715473.1:p.Ala8489Thr | |
| XM_006715412.2:c.25450G>A | XP_006715475.1:p.Ala8484Thr | |
| XM_006715413.2:c.25396G>A | XP_006715476.1:p.Ala8466Thr | |
| XM_006715415.2:c.25396G>A | XP_006715478.1:p.Ala8466Thr | |
| XM_006715416.2:c.25381G>A | XP_006715479.1:p.Ala8461Thr | |
| XM_006715417.2:c.25324G>A | XP_006715480.1:p.Ala8442Thr | |
| XM_006715420.2:c.25312G>A | XP_006715483.1:p.Ala8438Thr | |
| XM_006715421.2:c.25309G>A | XP_006715484.1:p.Ala8437Thr | |
| XM_006715423.2:c.25465G>A | XP_006715486.1:p.Ala8489Thr | |
| XM_006715424.2:c.25465G>A | XP_006715487.1:p.Ala8489Thr | |
| XM_006715425.2:c.25396G>A | XP_006715488.1:p.Ala8466Thr | |
| XM_011535641.2:c.25462G>A | XP_011533943.1:p.Ala8488Thr | |
| XM_011535642.2:c.25450G>A | XP_011533944.1:p.Ala8484Thr | |
| XM_011535645.2:c.23233G>A | XP_011533947.1:p.Ala7745Thr | |
| XM_017010608.1:c.25465G>A | XP_016866097.1:p.Ala8489Thr | |
| XM_017010609.1:c.25465G>A | XP_016866098.1:p.Ala8489Thr | |
| XM_017010610.1:c.25444G>A | XP_016866099.1:p.Ala8482Thr | |
| XM_017010611.2:c.25438G>A | XP_016866100.1:p.Ala8480Thr | |
| XM_017010612.1:c.25387G>A | XP_016866101.1:p.Ala8463Thr | |
| XM_017010613.1:c.25393G>A | XP_016866102.1:p.Ala8465Thr | |
| XM_017010614.1:c.25309G>A | XP_016866103.1:p.Ala8437Thr | |
| XM_017010615.1:c.25240G>A | XP_016866104.1:p.Ala8414Thr | |
| XM_017010616.1:c.25396G>A | XP_016866105.1:p.Ala8466Thr | |
| XM_017010617.1:c.25393G>A | XP_016866106.1:p.Ala8465Thr | |
| XM_017010618.1:c.25381G>A | XP_016866107.1:p.Ala8461Thr | |
| XM_017010619.1:c.23740G>A | XP_016866108.1:p.Ala7914Thr | |
| NM_182961.4:c.25360G>A MANE Select | NP_892006.3:p.Ala8454Thr | |
| NM_001347701.2:c.1966G>A | NP_001334630.1:p.Ala656Thr | |
| NM_001347702.2:c.1894G>A MANE Plus Clinical | NP_001334631.1:p.Ala632Thr | |
| NM_033071.5:c.25216G>A | NP_149062.2:p.Ala8406Thr |