Linked Data
ClinVar Variation Id:
285151
dbSNP Id:
rs776288515
ExAC:
6:152457837 C / T
gnomAD v2:
6-152457837-C-T
gnomAD v3:
6-152136702-C-T
gnomAD v4:
6-152136702-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152136702C>T , CM000668.2:g.152136702C>T | GRCh38 |
| NC_000006.11:g.152457837C>T , CM000668.1:g.152457837C>T | GRCh37 |
| NC_000006.10:g.152499530C>T | NCBI36 |
| NG_012855.1:g.505698G>A | |
| NG_012855.2:g.505698G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2109G>A MANE Plus Clinical | ENSP00000346701.4:p.Ser703= | |
| ENST00000367255.10:c.25575G>A MANE Select | ENSP00000356224.5:p.Ser8525= | |
| ENST00000423061.6:c.25431G>A | ENSP00000396024.1:p.Ser8477= | |
| ENST00000672154.1:c.977G>A | ||
| ENST00000672169.1:c.1310G>A | ||
| ENST00000673173.1:c.1219G>A | ||
| ENST00000673451.1:c.1347G>A | ENSP00000500189.1:p.Ser449= | |
| ENST00000341594.9:c.24360G>A | ENSP00000341887.6:p.Ser8120= | |
| ENST00000347037.9:n.2323G>A | ||
| ENST00000354674.4:c.2109G>A | ENSP00000346701.4:p.Ser703= | |
| ENST00000367251.7:c.4410G>A | ENSP00000356220.3:p.Ser1470= | |
| ENST00000367255.9:c.25575G>A | ENSP00000356224.5:p.Ser8525= | |
| ENST00000367256.9:n.9267G>A | ||
| ENST00000367257.8:c.3513G>A | ENSP00000356226.4:p.Ser1171= | |
| ENST00000409694.6:n.9159G>A | ||
| ENST00000423061.5:c.25431G>A | ENSP00000396024.1:p.Ser8477= | |
| ENST00000460912.6:n.2189G>A | ||
| ENST00000478916.5:n.4597G>A | ||
| ENST00000536990.5:n.2412G>A | ||
| ENST00000539504.5:c.2040G>A | ENSP00000441052.1:p.Ser680= | |
| NM_033071.3:c.25431G>A | NP_149062.1:p.Ser8477= | |
| NM_182961.3:c.25575G>A | NP_892006.3:p.Ser8525= | |
| XM_006715407.1:c.25680G>A | XP_006715470.1:p.Ser8560= | |
| XM_006715408.1:c.25668G>A | XP_006715471.1:p.Ser8556= | |
| XM_006715409.1:c.25659G>A | XP_006715472.1:p.Ser8553= | |
| XM_006715410.1:c.25680G>A | XP_006715473.1:p.Ser8560= | |
| XM_006715411.1:c.25629G>A | XP_006715474.1:p.Ser8543= | |
| XM_006715412.1:c.25665G>A | XP_006715475.1:p.Ser8555= | |
| XM_006715413.1:c.25611G>A | XP_006715476.1:p.Ser8537= | |
| XM_006715414.1:c.25608G>A | XP_006715477.1:p.Ser8536= | |
| XM_006715415.1:c.25611G>A | XP_006715478.1:p.Ser8537= | |
| XM_006715416.1:c.25596G>A | XP_006715479.1:p.Ser8532= | |
| XM_006715417.1:c.25539G>A | XP_006715480.1:p.Ser8513= | |
| XM_006715420.1:c.25527G>A | XP_006715483.1:p.Ser8509= | |
| XM_006715421.1:c.25524G>A | XP_006715484.1:p.Ser8508= | |
| XM_006715422.1:c.25521G>A | XP_006715485.1:p.Ser8507= | |
| XM_006715423.1:c.25680G>A | XP_006715486.1:p.Ser8560= | |
| XM_006715424.1:c.25680G>A | XP_006715487.1:p.Ser8560= | |
| XM_006715425.1:c.25611G>A | XP_006715488.1:p.Ser8537= | |
| XM_011535641.1:c.25677G>A | XP_011533943.1:p.Ser8559= | |
| XM_011535642.1:c.25665G>A | XP_011533944.1:p.Ser8555= | |
| XM_011535643.1:c.25515G>A | XP_011533945.1:p.Ser8505= | |
| XM_011535644.1:c.23955G>A | XP_011533946.1:p.Ser7985= | |
| XM_011535645.1:c.23448G>A | XP_011533947.1:p.Ser7816= | |
| XM_011535647.1:c.18915G>A | XP_011533949.1:p.Ser6305= | |
| NM_001347701.1:c.2181G>A | NP_001334630.1:p.Ser727= | |
| NM_001347702.1:c.2109G>A | NP_001334631.1:p.Ser703= | |
| XM_006715408.2:c.25668G>A | XP_006715471.1:p.Ser8556= | |
| XM_006715410.2:c.25680G>A | XP_006715473.1:p.Ser8560= | |
| XM_006715412.2:c.25665G>A | XP_006715475.1:p.Ser8555= | |
| XM_006715413.2:c.25611G>A | XP_006715476.1:p.Ser8537= | |
| XM_006715415.2:c.25611G>A | XP_006715478.1:p.Ser8537= | |
| XM_006715416.2:c.25596G>A | XP_006715479.1:p.Ser8532= | |
| XM_006715417.2:c.25539G>A | XP_006715480.1:p.Ser8513= | |
| XM_006715420.2:c.25527G>A | XP_006715483.1:p.Ser8509= | |
| XM_006715421.2:c.25524G>A | XP_006715484.1:p.Ser8508= | |
| XM_006715423.2:c.25680G>A | XP_006715486.1:p.Ser8560= | |
| XM_006715424.2:c.25680G>A | XP_006715487.1:p.Ser8560= | |
| XM_006715425.2:c.25611G>A | XP_006715488.1:p.Ser8537= | |
| XM_011535641.2:c.25677G>A | XP_011533943.1:p.Ser8559= | |
| XM_011535642.2:c.25665G>A | XP_011533944.1:p.Ser8555= | |
| XM_011535645.2:c.23448G>A | XP_011533947.1:p.Ser7816= | |
| XM_017010608.1:c.25680G>A | XP_016866097.1:p.Ser8560= | |
| XM_017010609.1:c.25680G>A | XP_016866098.1:p.Ser8560= | |
| XM_017010610.1:c.25659G>A | XP_016866099.1:p.Ser8553= | |
| XM_017010611.2:c.25653G>A | XP_016866100.1:p.Ser8551= | |
| XM_017010612.1:c.25602G>A | XP_016866101.1:p.Ser8534= | |
| XM_017010613.1:c.25608G>A | XP_016866102.1:p.Ser8536= | |
| XM_017010614.1:c.25524G>A | XP_016866103.1:p.Ser8508= | |
| XM_017010615.1:c.25455G>A | XP_016866104.1:p.Ser8485= | |
| XM_017010616.1:c.25611G>A | XP_016866105.1:p.Ser8537= | |
| XM_017010617.1:c.25608G>A | XP_016866106.1:p.Ser8536= | |
| XM_017010618.1:c.25596G>A | XP_016866107.1:p.Ser8532= | |
| XM_017010619.1:c.23955G>A | XP_016866108.1:p.Ser7985= | |
| NM_182961.4:c.25575G>A MANE Select | NP_892006.3:p.Ser8525= | |
| NM_001347701.2:c.2181G>A | NP_001334630.1:p.Ser727= | |
| NM_001347702.2:c.2109G>A MANE Plus Clinical | NP_001334631.1:p.Ser703= | |
| NM_033071.5:c.25431G>A | NP_149062.2:p.Ser8477= |