Linked Data
dbSNP Id:
rs1338204523
gnomAD v2:
6-152461246-A-C
gnomAD v3:
6-152140111-A-C
gnomAD v4:
6-152140111-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152140111A>C , CM000668.2:g.152140111A>C | GRCh38 |
| NC_000006.11:g.152461246A>C , CM000668.1:g.152461246A>C | GRCh37 |
| NC_000006.10:g.152502939A>C | NCBI36 |
| NG_012855.1:g.502289T>G | |
| NG_012855.2:g.502289T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1831T>G MANE Plus Clinical | ENSP00000346701.4:p.Leu611Val | |
| ENST00000367255.10:c.25297T>G MANE Select | ENSP00000356224.5:p.Leu8433Val | |
| ENST00000423061.6:c.25153T>G | ENSP00000396024.1:p.Leu8385Val | |
| ENST00000672154.1:c.699T>G | ||
| ENST00000672169.1:c.1032T>G | ||
| ENST00000673173.1:c.941T>G | ||
| ENST00000673451.1:c.1069T>G | ENSP00000500189.1:p.Leu357Val | |
| ENST00000341594.9:c.24082T>G | ENSP00000341887.6:p.Leu8028Val | |
| ENST00000347037.9:n.2045T>G | ||
| ENST00000354674.4:c.1831T>G | ENSP00000346701.4:p.Leu611Val | |
| ENST00000367251.7:c.4132T>G | ENSP00000356220.3:p.Leu1378Val | |
| ENST00000367255.9:c.25297T>G | ENSP00000356224.5:p.Leu8433Val | |
| ENST00000367256.9:n.8989T>G | ||
| ENST00000367257.8:c.3235T>G | ENSP00000356226.4:p.Leu1079Val | |
| ENST00000409694.6:n.8881T>G | ||
| ENST00000423061.5:c.25153T>G | ENSP00000396024.1:p.Leu8385Val | |
| ENST00000460912.6:n.1911T>G | ||
| ENST00000478916.5:n.4319T>G | ||
| ENST00000536990.5:n.2134T>G | ||
| ENST00000539504.5:c.1762T>G | ENSP00000441052.1:p.Leu588Val | |
| NM_033071.3:c.25153T>G | NP_149062.1:p.Leu8385Val | |
| NM_182961.3:c.25297T>G | NP_892006.3:p.Leu8433Val | |
| XM_006715407.1:c.25402T>G | XP_006715470.1:p.Leu8468Val | |
| XM_006715408.1:c.25390T>G | XP_006715471.1:p.Leu8464Val | |
| XM_006715409.1:c.25381T>G | XP_006715472.1:p.Leu8461Val | |
| XM_006715410.1:c.25402T>G | XP_006715473.1:p.Leu8468Val | |
| XM_006715411.1:c.25351T>G | XP_006715474.1:p.Leu8451Val | |
| XM_006715412.1:c.25387T>G | XP_006715475.1:p.Leu8463Val | |
| XM_006715413.1:c.25333T>G | XP_006715476.1:p.Leu8445Val | |
| XM_006715414.1:c.25330T>G | XP_006715477.1:p.Leu8444Val | |
| XM_006715415.1:c.25333T>G | XP_006715478.1:p.Leu8445Val | |
| XM_006715416.1:c.25318T>G | XP_006715479.1:p.Leu8440Val | |
| XM_006715417.1:c.25261T>G | XP_006715480.1:p.Leu8421Val | |
| XM_006715420.1:c.25249T>G | XP_006715483.1:p.Leu8417Val | |
| XM_006715421.1:c.25246T>G | XP_006715484.1:p.Leu8416Val | |
| XM_006715422.1:c.25243T>G | XP_006715485.1:p.Leu8415Val | |
| XM_006715423.1:c.25402T>G | XP_006715486.1:p.Leu8468Val | |
| XM_006715424.1:c.25402T>G | XP_006715487.1:p.Leu8468Val | |
| XM_006715425.1:c.25333T>G | XP_006715488.1:p.Leu8445Val | |
| XM_011535641.1:c.25399T>G | XP_011533943.1:p.Leu8467Val | |
| XM_011535642.1:c.25387T>G | XP_011533944.1:p.Leu8463Val | |
| XM_011535643.1:c.25237T>G | XP_011533945.1:p.Leu8413Val | |
| XM_011535644.1:c.23677T>G | XP_011533946.1:p.Leu7893Val | |
| XM_011535645.1:c.23170T>G | XP_011533947.1:p.Leu7724Val | |
| XM_011535647.1:c.18637T>G | XP_011533949.1:p.Leu6213Val | |
| NM_001347701.1:c.1903T>G | NP_001334630.1:p.Leu635Val | |
| NM_001347702.1:c.1831T>G | NP_001334631.1:p.Leu611Val | |
| XM_006715408.2:c.25390T>G | XP_006715471.1:p.Leu8464Val | |
| XM_006715410.2:c.25402T>G | XP_006715473.1:p.Leu8468Val | |
| XM_006715412.2:c.25387T>G | XP_006715475.1:p.Leu8463Val | |
| XM_006715413.2:c.25333T>G | XP_006715476.1:p.Leu8445Val | |
| XM_006715415.2:c.25333T>G | XP_006715478.1:p.Leu8445Val | |
| XM_006715416.2:c.25318T>G | XP_006715479.1:p.Leu8440Val | |
| XM_006715417.2:c.25261T>G | XP_006715480.1:p.Leu8421Val | |
| XM_006715420.2:c.25249T>G | XP_006715483.1:p.Leu8417Val | |
| XM_006715421.2:c.25246T>G | XP_006715484.1:p.Leu8416Val | |
| XM_006715423.2:c.25402T>G | XP_006715486.1:p.Leu8468Val | |
| XM_006715424.2:c.25402T>G | XP_006715487.1:p.Leu8468Val | |
| XM_006715425.2:c.25333T>G | XP_006715488.1:p.Leu8445Val | |
| XM_011535641.2:c.25399T>G | XP_011533943.1:p.Leu8467Val | |
| XM_011535642.2:c.25387T>G | XP_011533944.1:p.Leu8463Val | |
| XM_011535645.2:c.23170T>G | XP_011533947.1:p.Leu7724Val | |
| XM_017010608.1:c.25402T>G | XP_016866097.1:p.Leu8468Val | |
| XM_017010609.1:c.25402T>G | XP_016866098.1:p.Leu8468Val | |
| XM_017010610.1:c.25381T>G | XP_016866099.1:p.Leu8461Val | |
| XM_017010611.2:c.25375T>G | XP_016866100.1:p.Leu8459Val | |
| XM_017010612.1:c.25324T>G | XP_016866101.1:p.Leu8442Val | |
| XM_017010613.1:c.25330T>G | XP_016866102.1:p.Leu8444Val | |
| XM_017010614.1:c.25246T>G | XP_016866103.1:p.Leu8416Val | |
| XM_017010615.1:c.25177T>G | XP_016866104.1:p.Leu8393Val | |
| XM_017010616.1:c.25333T>G | XP_016866105.1:p.Leu8445Val | |
| XM_017010617.1:c.25330T>G | XP_016866106.1:p.Leu8444Val | |
| XM_017010618.1:c.25318T>G | XP_016866107.1:p.Leu8440Val | |
| XM_017010619.1:c.23677T>G | XP_016866108.1:p.Leu7893Val | |
| NM_182961.4:c.25297T>G MANE Select | NP_892006.3:p.Leu8433Val | |
| NM_001347701.2:c.1903T>G | NP_001334630.1:p.Leu635Val | |
| NM_001347702.2:c.1831T>G MANE Plus Clinical | NP_001334631.1:p.Leu611Val | |
| NM_033071.5:c.25153T>G | NP_149062.2:p.Leu8385Val |