Linked Data
ClinVar Variation Id:
288384
dbSNP Id:
rs114858512
ExAC:
6:152675920 C / T
gnomAD v2:
6-152675920-C-T
gnomAD v3:
6-152354785-C-T
gnomAD v4:
6-152354785-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152354785C>T , CM000668.2:g.152354785C>T | GRCh38 |
| NC_000006.11:g.152675920C>T , CM000668.1:g.152675920C>T | GRCh37 |
| NC_000006.10:g.152717613C>T | NCBI36 |
| NG_012855.1:g.287615G>A | |
| NG_012855.2:g.287615G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.10800G>A MANE Select | ENSP00000356224.5:p.Leu3600= | |
| ENST00000423061.6:c.10821G>A | ENSP00000396024.1:p.Leu3607= | |
| ENST00000341594.9:c.10662G>A | ENSP00000341887.6:p.Leu3554= | |
| ENST00000367255.9:c.10800G>A | ENSP00000356224.5:p.Leu3600= | |
| ENST00000423061.5:c.10821G>A | ENSP00000396024.1:p.Leu3607= | |
| ENST00000471834.1:n.3938G>A | ||
| NM_033071.3:c.10821G>A | NP_149062.1:p.Leu3607= | |
| NM_182961.3:c.10800G>A | NP_892006.3:p.Leu3600= | |
| XM_006715407.1:c.10821G>A | XP_006715470.1:p.Leu3607= | |
| XM_006715408.1:c.10821G>A | XP_006715471.1:p.Leu3607= | |
| XM_006715409.1:c.10800G>A | XP_006715472.1:p.Leu3600= | |
| XM_006715410.1:c.10821G>A | XP_006715473.1:p.Leu3607= | |
| XM_006715411.1:c.10770G>A | XP_006715474.1:p.Leu3590= | |
| XM_006715412.1:c.10821G>A | XP_006715475.1:p.Leu3607= | |
| XM_006715413.1:c.10821G>A | XP_006715476.1:p.Leu3607= | |
| XM_006715414.1:c.10749G>A | XP_006715477.1:p.Leu3583= | |
| XM_006715415.1:c.10821G>A | XP_006715478.1:p.Leu3607= | |
| XM_006715416.1:c.10821G>A | XP_006715479.1:p.Leu3607= | |
| XM_006715417.1:c.10821G>A | XP_006715480.1:p.Leu3607= | |
| XM_006715420.1:c.10821G>A | XP_006715483.1:p.Leu3607= | |
| XM_006715421.1:c.10665G>A | XP_006715484.1:p.Leu3555= | |
| XM_006715422.1:c.10662G>A | XP_006715485.1:p.Leu3554= | |
| XM_006715423.1:c.10821G>A | XP_006715486.1:p.Leu3607= | |
| XM_006715424.1:c.10821G>A | XP_006715487.1:p.Leu3607= | |
| XM_006715425.1:c.10821G>A | XP_006715488.1:p.Leu3607= | |
| XM_011535641.1:c.10821G>A | XP_011533943.1:p.Leu3607= | |
| XM_011535642.1:c.10821G>A | XP_011533944.1:p.Leu3607= | |
| XM_011535643.1:c.10656G>A | XP_011533945.1:p.Leu3552= | |
| XM_011535644.1:c.9096G>A | XP_011533946.1:p.Leu3032= | |
| XM_011535645.1:c.8589G>A | XP_011533947.1:p.Leu2863= | |
| XM_011535646.1:c.10821G>A | XP_011533948.1:p.Leu3607= | |
| XM_011535647.1:c.4056G>A | XP_011533949.1:p.Leu1352= | |
| XM_006715408.2:c.10821G>A | XP_006715471.1:p.Leu3607= | |
| XM_006715410.2:c.10821G>A | XP_006715473.1:p.Leu3607= | |
| XM_006715412.2:c.10821G>A | XP_006715475.1:p.Leu3607= | |
| XM_006715413.2:c.10821G>A | XP_006715476.1:p.Leu3607= | |
| XM_006715415.2:c.10821G>A | XP_006715478.1:p.Leu3607= | |
| XM_006715416.2:c.10821G>A | XP_006715479.1:p.Leu3607= | |
| XM_006715417.2:c.10821G>A | XP_006715480.1:p.Leu3607= | |
| XM_006715420.2:c.10821G>A | XP_006715483.1:p.Leu3607= | |
| XM_006715421.2:c.10665G>A | XP_006715484.1:p.Leu3555= | |
| XM_006715423.2:c.10821G>A | XP_006715486.1:p.Leu3607= | |
| XM_006715424.2:c.10821G>A | XP_006715487.1:p.Leu3607= | |
| XM_006715425.2:c.10821G>A | XP_006715488.1:p.Leu3607= | |
| XM_011535641.2:c.10821G>A | XP_011533943.1:p.Leu3607= | |
| XM_011535642.2:c.10821G>A | XP_011533944.1:p.Leu3607= | |
| XM_011535645.2:c.8589G>A | XP_011533947.1:p.Leu2863= | |
| XM_017010608.1:c.10821G>A | XP_016866097.1:p.Leu3607= | |
| XM_017010609.1:c.10821G>A | XP_016866098.1:p.Leu3607= | |
| XM_017010610.1:c.10800G>A | XP_016866099.1:p.Leu3600= | |
| XM_017010611.2:c.10794G>A | XP_016866100.1:p.Leu3598= | |
| XM_017010612.1:c.10743G>A | XP_016866101.1:p.Leu3581= | |
| XM_017010613.1:c.10821G>A | XP_016866102.1:p.Leu3607= | |
| XM_017010614.1:c.10821G>A | XP_016866103.1:p.Leu3607= | |
| XM_017010615.1:c.10821G>A | XP_016866104.1:p.Leu3607= | |
| XM_017010616.1:c.10821G>A | XP_016866105.1:p.Leu3607= | |
| XM_017010617.1:c.10821G>A | XP_016866106.1:p.Leu3607= | |
| XM_017010618.1:c.10821G>A | XP_016866107.1:p.Leu3607= | |
| XM_017010619.1:c.9096G>A | XP_016866108.1:p.Leu3032= | |
| XR_001743287.1:n.11304G>A | ||
| NM_182961.4:c.10800G>A MANE Select | NP_892006.3:p.Leu3600= | |
| NM_033071.5:c.10821G>A | NP_149062.2:p.Leu3607= |