Linked Data
ClinVar Variation Id:
355821
dbSNP Id:
rs200800604
ExAC:
6:152501396 A / G
gnomAD v2:
6-152501396-A-G
gnomAD v3:
6-152180261-A-G
gnomAD v4:
6-152180261-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152180261A>G , CM000668.2:g.152180261A>G | GRCh38 |
| NC_000006.11:g.152501396A>G , CM000668.1:g.152501396A>G | GRCh37 |
| NC_000006.10:g.152543089A>G | NCBI36 |
| NG_012855.1:g.462139T>C | |
| NG_012855.2:g.462139T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.23335T>C MANE Select | ENSP00000356224.5:p.Leu7779= | |
| ENST00000423061.6:c.23122T>C | ENSP00000396024.1:p.Leu7708= | |
| ENST00000341594.9:c.22120T>C | ENSP00000341887.6:p.Leu7374= | |
| ENST00000367251.7:c.2101T>C | ENSP00000356220.3:p.Leu701= | |
| ENST00000367255.9:c.23335T>C | ENSP00000356224.5:p.Leu7779= | |
| ENST00000367256.9:n.7027T>C | ||
| ENST00000367257.8:c.1273T>C | ENSP00000356226.4:p.Leu425= | |
| ENST00000409694.6:n.6919T>C | ||
| ENST00000423061.5:c.23122T>C | ENSP00000396024.1:p.Leu7708= | |
| ENST00000536990.5:n.172T>C | ||
| NM_033071.3:c.23122T>C | NP_149062.1:p.Leu7708= | |
| NM_182961.3:c.23335T>C | NP_892006.3:p.Leu7779= | |
| XM_006715407.1:c.23371T>C | XP_006715470.1:p.Leu7791= | |
| XM_006715408.1:c.23359T>C | XP_006715471.1:p.Leu7787= | |
| XM_006715409.1:c.23350T>C | XP_006715472.1:p.Leu7784= | |
| XM_006715410.1:c.23371T>C | XP_006715473.1:p.Leu7791= | |
| XM_006715411.1:c.23320T>C | XP_006715474.1:p.Leu7774= | |
| XM_006715412.1:c.23356T>C | XP_006715475.1:p.Leu7786= | |
| XM_006715413.1:c.23371T>C | XP_006715476.1:p.Leu7791= | |
| XM_006715414.1:c.23299T>C | XP_006715477.1:p.Leu7767= | |
| XM_006715415.1:c.23371T>C | XP_006715478.1:p.Leu7791= | |
| XM_006715416.1:c.23356T>C | XP_006715479.1:p.Leu7786= | |
| XM_006715417.1:c.23230T>C | XP_006715480.1:p.Leu7744= | |
| XM_006715420.1:c.23218T>C | XP_006715483.1:p.Leu7740= | |
| XM_006715421.1:c.23215T>C | XP_006715484.1:p.Leu7739= | |
| XM_006715422.1:c.23212T>C | XP_006715485.1:p.Leu7738= | |
| XM_006715423.1:c.23371T>C | XP_006715486.1:p.Leu7791= | |
| XM_006715424.1:c.23371T>C | XP_006715487.1:p.Leu7791= | |
| XM_006715425.1:c.23371T>C | XP_006715488.1:p.Leu7791= | |
| XM_011535641.1:c.23368T>C | XP_011533943.1:p.Leu7790= | |
| XM_011535642.1:c.23356T>C | XP_011533944.1:p.Leu7786= | |
| XM_011535643.1:c.23206T>C | XP_011533945.1:p.Leu7736= | |
| XM_011535644.1:c.21646T>C | XP_011533946.1:p.Leu7216= | |
| XM_011535645.1:c.21139T>C | XP_011533947.1:p.Leu7047= | |
| XM_011535647.1:c.16606T>C | XP_011533949.1:p.Leu5536= | |
| NM_001347701.1:c.-60T>C | NP_001334630.1:n.-60T>C | |
| XM_006715408.2:c.23359T>C | XP_006715471.1:p.Leu7787= | |
| XM_006715410.2:c.23371T>C | XP_006715473.1:p.Leu7791= | |
| XM_006715412.2:c.23356T>C | XP_006715475.1:p.Leu7786= | |
| XM_006715413.2:c.23371T>C | XP_006715476.1:p.Leu7791= | |
| XM_006715415.2:c.23371T>C | XP_006715478.1:p.Leu7791= | |
| XM_006715416.2:c.23356T>C | XP_006715479.1:p.Leu7786= | |
| XM_006715417.2:c.23230T>C | XP_006715480.1:p.Leu7744= | |
| XM_006715420.2:c.23218T>C | XP_006715483.1:p.Leu7740= | |
| XM_006715421.2:c.23215T>C | XP_006715484.1:p.Leu7739= | |
| XM_006715423.2:c.23371T>C | XP_006715486.1:p.Leu7791= | |
| XM_006715424.2:c.23371T>C | XP_006715487.1:p.Leu7791= | |
| XM_006715425.2:c.23371T>C | XP_006715488.1:p.Leu7791= | |
| XM_011535641.2:c.23368T>C | XP_011533943.1:p.Leu7790= | |
| XM_011535642.2:c.23356T>C | XP_011533944.1:p.Leu7786= | |
| XM_011535645.2:c.21139T>C | XP_011533947.1:p.Leu7047= | |
| XM_017010608.1:c.23371T>C | XP_016866097.1:p.Leu7791= | |
| XM_017010609.1:c.23371T>C | XP_016866098.1:p.Leu7791= | |
| XM_017010610.1:c.23350T>C | XP_016866099.1:p.Leu7784= | |
| XM_017010611.2:c.23344T>C | XP_016866100.1:p.Leu7782= | |
| XM_017010612.1:c.23293T>C | XP_016866101.1:p.Leu7765= | |
| XM_017010613.1:c.23368T>C | XP_016866102.1:p.Leu7790= | |
| XM_017010614.1:c.23215T>C | XP_016866103.1:p.Leu7739= | |
| XM_017010615.1:c.23215T>C | XP_016866104.1:p.Leu7739= | |
| XM_017010616.1:c.23371T>C | XP_016866105.1:p.Leu7791= | |
| XM_017010617.1:c.23368T>C | XP_016866106.1:p.Leu7790= | |
| XM_017010618.1:c.23356T>C | XP_016866107.1:p.Leu7786= | |
| XM_017010619.1:c.21646T>C | XP_016866108.1:p.Leu7216= | |
| NM_182961.4:c.23335T>C MANE Select | NP_892006.3:p.Leu7779= | |
| NM_001347701.2:c.-60T>C | NP_001334630.1:n.-60T>C | |
| NM_033071.5:c.23122T>C | NP_149062.2:p.Leu7708= |