Linked Data
ClinVar Variation Id:
285365
dbSNP Id:
rs139679692
ExAC:
6:152461201 C / T
gnomAD v2:
6-152461201-C-T
gnomAD v3:
6-152140066-C-T
gnomAD v4:
6-152140066-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152140066C>T , CM000668.2:g.152140066C>T | GRCh38 |
| NC_000006.11:g.152461201C>T , CM000668.1:g.152461201C>T | GRCh37 |
| NC_000006.10:g.152502894C>T | NCBI36 |
| NG_012855.1:g.502334G>A | |
| NG_012855.2:g.502334G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1876G>A MANE Plus Clinical | ENSP00000346701.4:p.Asp626Asn | |
| ENST00000367255.10:c.25342G>A MANE Select | ENSP00000356224.5:p.Asp8448Asn | |
| ENST00000423061.6:c.25198G>A | ENSP00000396024.1:p.Asp8400Asn | |
| ENST00000672154.1:c.744G>A | ||
| ENST00000672169.1:c.1077G>A | ||
| ENST00000673173.1:c.986G>A | ||
| ENST00000673451.1:c.1114G>A | ENSP00000500189.1:p.Asp372Asn | |
| ENST00000341594.9:c.24127G>A | ENSP00000341887.6:p.Asp8043Asn | |
| ENST00000347037.9:n.2090G>A | ||
| ENST00000354674.4:c.1876G>A | ENSP00000346701.4:p.Asp626Asn | |
| ENST00000367251.7:c.4177G>A | ENSP00000356220.3:p.Asp1393Asn | |
| ENST00000367255.9:c.25342G>A | ENSP00000356224.5:p.Asp8448Asn | |
| ENST00000367256.9:n.9034G>A | ||
| ENST00000367257.8:c.3280G>A | ENSP00000356226.4:p.Asp1094Asn | |
| ENST00000409694.6:n.8926G>A | ||
| ENST00000423061.5:c.25198G>A | ENSP00000396024.1:p.Asp8400Asn | |
| ENST00000460912.6:n.1956G>A | ||
| ENST00000478916.5:n.4364G>A | ||
| ENST00000536990.5:n.2179G>A | ||
| ENST00000539504.5:c.1807G>A | ENSP00000441052.1:p.Asp603Asn | |
| NM_033071.3:c.25198G>A | NP_149062.1:p.Asp8400Asn | |
| NM_182961.3:c.25342G>A | NP_892006.3:p.Asp8448Asn | |
| XM_006715407.1:c.25447G>A | XP_006715470.1:p.Asp8483Asn | |
| XM_006715408.1:c.25435G>A | XP_006715471.1:p.Asp8479Asn | |
| XM_006715409.1:c.25426G>A | XP_006715472.1:p.Asp8476Asn | |
| XM_006715410.1:c.25447G>A | XP_006715473.1:p.Asp8483Asn | |
| XM_006715411.1:c.25396G>A | XP_006715474.1:p.Asp8466Asn | |
| XM_006715412.1:c.25432G>A | XP_006715475.1:p.Asp8478Asn | |
| XM_006715413.1:c.25378G>A | XP_006715476.1:p.Asp8460Asn | |
| XM_006715414.1:c.25375G>A | XP_006715477.1:p.Asp8459Asn | |
| XM_006715415.1:c.25378G>A | XP_006715478.1:p.Asp8460Asn | |
| XM_006715416.1:c.25363G>A | XP_006715479.1:p.Asp8455Asn | |
| XM_006715417.1:c.25306G>A | XP_006715480.1:p.Asp8436Asn | |
| XM_006715420.1:c.25294G>A | XP_006715483.1:p.Asp8432Asn | |
| XM_006715421.1:c.25291G>A | XP_006715484.1:p.Asp8431Asn | |
| XM_006715422.1:c.25288G>A | XP_006715485.1:p.Asp8430Asn | |
| XM_006715423.1:c.25447G>A | XP_006715486.1:p.Asp8483Asn | |
| XM_006715424.1:c.25447G>A | XP_006715487.1:p.Asp8483Asn | |
| XM_006715425.1:c.25378G>A | XP_006715488.1:p.Asp8460Asn | |
| XM_011535641.1:c.25444G>A | XP_011533943.1:p.Asp8482Asn | |
| XM_011535642.1:c.25432G>A | XP_011533944.1:p.Asp8478Asn | |
| XM_011535643.1:c.25282G>A | XP_011533945.1:p.Asp8428Asn | |
| XM_011535644.1:c.23722G>A | XP_011533946.1:p.Asp7908Asn | |
| XM_011535645.1:c.23215G>A | XP_011533947.1:p.Asp7739Asn | |
| XM_011535647.1:c.18682G>A | XP_011533949.1:p.Asp6228Asn | |
| NM_001347701.1:c.1948G>A | NP_001334630.1:p.Asp650Asn | |
| NM_001347702.1:c.1876G>A | NP_001334631.1:p.Asp626Asn | |
| XM_006715408.2:c.25435G>A | XP_006715471.1:p.Asp8479Asn | |
| XM_006715410.2:c.25447G>A | XP_006715473.1:p.Asp8483Asn | |
| XM_006715412.2:c.25432G>A | XP_006715475.1:p.Asp8478Asn | |
| XM_006715413.2:c.25378G>A | XP_006715476.1:p.Asp8460Asn | |
| XM_006715415.2:c.25378G>A | XP_006715478.1:p.Asp8460Asn | |
| XM_006715416.2:c.25363G>A | XP_006715479.1:p.Asp8455Asn | |
| XM_006715417.2:c.25306G>A | XP_006715480.1:p.Asp8436Asn | |
| XM_006715420.2:c.25294G>A | XP_006715483.1:p.Asp8432Asn | |
| XM_006715421.2:c.25291G>A | XP_006715484.1:p.Asp8431Asn | |
| XM_006715423.2:c.25447G>A | XP_006715486.1:p.Asp8483Asn | |
| XM_006715424.2:c.25447G>A | XP_006715487.1:p.Asp8483Asn | |
| XM_006715425.2:c.25378G>A | XP_006715488.1:p.Asp8460Asn | |
| XM_011535641.2:c.25444G>A | XP_011533943.1:p.Asp8482Asn | |
| XM_011535642.2:c.25432G>A | XP_011533944.1:p.Asp8478Asn | |
| XM_011535645.2:c.23215G>A | XP_011533947.1:p.Asp7739Asn | |
| XM_017010608.1:c.25447G>A | XP_016866097.1:p.Asp8483Asn | |
| XM_017010609.1:c.25447G>A | XP_016866098.1:p.Asp8483Asn | |
| XM_017010610.1:c.25426G>A | XP_016866099.1:p.Asp8476Asn | |
| XM_017010611.2:c.25420G>A | XP_016866100.1:p.Asp8474Asn | |
| XM_017010612.1:c.25369G>A | XP_016866101.1:p.Asp8457Asn | |
| XM_017010613.1:c.25375G>A | XP_016866102.1:p.Asp8459Asn | |
| XM_017010614.1:c.25291G>A | XP_016866103.1:p.Asp8431Asn | |
| XM_017010615.1:c.25222G>A | XP_016866104.1:p.Asp8408Asn | |
| XM_017010616.1:c.25378G>A | XP_016866105.1:p.Asp8460Asn | |
| XM_017010617.1:c.25375G>A | XP_016866106.1:p.Asp8459Asn | |
| XM_017010618.1:c.25363G>A | XP_016866107.1:p.Asp8455Asn | |
| XM_017010619.1:c.23722G>A | XP_016866108.1:p.Asp7908Asn | |
| NM_182961.4:c.25342G>A MANE Select | NP_892006.3:p.Asp8448Asn | |
| NM_001347701.2:c.1948G>A | NP_001334630.1:p.Asp650Asn | |
| NM_001347702.2:c.1876G>A MANE Plus Clinical | NP_001334631.1:p.Asp626Asn | |
| NM_033071.5:c.25198G>A | NP_149062.2:p.Asp8400Asn |