Linked Data
ClinVar Variation Id:
284935
dbSNP Id:
rs111367233
ExAC:
6:152529314 G / A
gnomAD v2:
6-152529314-G-A
gnomAD v3:
6-152208179-G-A
gnomAD v4:
6-152208179-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152208179G>A , CM000668.2:g.152208179G>A | GRCh38 |
| NC_000006.11:g.152529314G>A , CM000668.1:g.152529314G>A | GRCh37 |
| NC_000006.10:g.152571007G>A | NCBI36 |
| NG_012855.1:g.434221C>T | |
| NG_012855.2:g.434221C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.22617C>T MANE Select | ENSP00000356224.5:p.Leu7539= | |
| ENST00000423061.6:c.22404C>T | ENSP00000396024.1:p.Leu7468= | |
| ENST00000341594.9:c.21402C>T | ENSP00000341887.6:p.Leu7134= | |
| ENST00000367251.7:c.1383C>T | ENSP00000356220.3:p.Leu461= | |
| ENST00000367255.9:c.22617C>T | ENSP00000356224.5:p.Leu7539= | |
| ENST00000367256.9:n.6309C>T | ||
| ENST00000367257.8:c.555C>T | ENSP00000356226.4:p.Leu185= | |
| ENST00000409694.6:n.6201C>T | ||
| ENST00000423061.5:c.22404C>T | ENSP00000396024.1:p.Leu7468= | |
| NM_033071.3:c.22404C>T | NP_149062.1:p.Leu7468= | |
| NM_182961.3:c.22617C>T | NP_892006.3:p.Leu7539= | |
| XM_006715407.1:c.22653C>T | XP_006715470.1:p.Leu7551= | |
| XM_006715408.1:c.22641C>T | XP_006715471.1:p.Leu7547= | |
| XM_006715409.1:c.22632C>T | XP_006715472.1:p.Leu7544= | |
| XM_006715410.1:c.22653C>T | XP_006715473.1:p.Leu7551= | |
| XM_006715411.1:c.22602C>T | XP_006715474.1:p.Leu7534= | |
| XM_006715412.1:c.22638C>T | XP_006715475.1:p.Leu7546= | |
| XM_006715413.1:c.22653C>T | XP_006715476.1:p.Leu7551= | |
| XM_006715414.1:c.22581C>T | XP_006715477.1:p.Leu7527= | |
| XM_006715415.1:c.22653C>T | XP_006715478.1:p.Leu7551= | |
| XM_006715416.1:c.22638C>T | XP_006715479.1:p.Leu7546= | |
| XM_006715417.1:c.22512C>T | XP_006715480.1:p.Leu7504= | |
| XM_006715420.1:c.22500C>T | XP_006715483.1:p.Leu7500= | |
| XM_006715421.1:c.22497C>T | XP_006715484.1:p.Leu7499= | |
| XM_006715422.1:c.22494C>T | XP_006715485.1:p.Leu7498= | |
| XM_006715423.1:c.22653C>T | XP_006715486.1:p.Leu7551= | |
| XM_006715424.1:c.22653C>T | XP_006715487.1:p.Leu7551= | |
| XM_006715425.1:c.22653C>T | XP_006715488.1:p.Leu7551= | |
| XM_011535641.1:c.22650C>T | XP_011533943.1:p.Leu7550= | |
| XM_011535642.1:c.22638C>T | XP_011533944.1:p.Leu7546= | |
| XM_011535643.1:c.22488C>T | XP_011533945.1:p.Leu7496= | |
| XM_011535644.1:c.20928C>T | XP_011533946.1:p.Leu6976= | |
| XM_011535645.1:c.20421C>T | XP_011533947.1:p.Leu6807= | |
| XM_011535647.1:c.15888C>T | XP_011533949.1:p.Leu5296= | |
| XM_006715408.2:c.22641C>T | XP_006715471.1:p.Leu7547= | |
| XM_006715410.2:c.22653C>T | XP_006715473.1:p.Leu7551= | |
| XM_006715412.2:c.22638C>T | XP_006715475.1:p.Leu7546= | |
| XM_006715413.2:c.22653C>T | XP_006715476.1:p.Leu7551= | |
| XM_006715415.2:c.22653C>T | XP_006715478.1:p.Leu7551= | |
| XM_006715416.2:c.22638C>T | XP_006715479.1:p.Leu7546= | |
| XM_006715417.2:c.22512C>T | XP_006715480.1:p.Leu7504= | |
| XM_006715420.2:c.22500C>T | XP_006715483.1:p.Leu7500= | |
| XM_006715421.2:c.22497C>T | XP_006715484.1:p.Leu7499= | |
| XM_006715423.2:c.22653C>T | XP_006715486.1:p.Leu7551= | |
| XM_006715424.2:c.22653C>T | XP_006715487.1:p.Leu7551= | |
| XM_006715425.2:c.22653C>T | XP_006715488.1:p.Leu7551= | |
| XM_011535641.2:c.22650C>T | XP_011533943.1:p.Leu7550= | |
| XM_011535642.2:c.22638C>T | XP_011533944.1:p.Leu7546= | |
| XM_011535645.2:c.20421C>T | XP_011533947.1:p.Leu6807= | |
| XM_017010608.1:c.22653C>T | XP_016866097.1:p.Leu7551= | |
| XM_017010609.1:c.22653C>T | XP_016866098.1:p.Leu7551= | |
| XM_017010610.1:c.22632C>T | XP_016866099.1:p.Leu7544= | |
| XM_017010611.2:c.22626C>T | XP_016866100.1:p.Leu7542= | |
| XM_017010612.1:c.22575C>T | XP_016866101.1:p.Leu7525= | |
| XM_017010613.1:c.22650C>T | XP_016866102.1:p.Leu7550= | |
| XM_017010614.1:c.22497C>T | XP_016866103.1:p.Leu7499= | |
| XM_017010615.1:c.22497C>T | XP_016866104.1:p.Leu7499= | |
| XM_017010616.1:c.22653C>T | XP_016866105.1:p.Leu7551= | |
| XM_017010617.1:c.22650C>T | XP_016866106.1:p.Leu7550= | |
| XM_017010618.1:c.22638C>T | XP_016866107.1:p.Leu7546= | |
| XM_017010619.1:c.20928C>T | XP_016866108.1:p.Leu6976= | |
| NM_182961.4:c.22617C>T MANE Select | NP_892006.3:p.Leu7539= | |
| NM_033071.5:c.22404C>T | NP_149062.2:p.Leu7468= |