Linked Data
ClinVar Variation Id:
284824
ClinVar RCV Id:
RCV000372096
dbSNP Id:
rs758254064
gnomAD v2:
6-152461238-C-A
gnomAD v3:
6-152140103-C-A
gnomAD v4:
6-152140103-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152140103C>A , CM000668.2:g.152140103C>A | GRCh38 |
| NC_000006.11:g.152461238C>A , CM000668.1:g.152461238C>A | GRCh37 |
| NC_000006.10:g.152502931C>A | NCBI36 |
| NG_012855.1:g.502297G>T | |
| NG_012855.2:g.502297G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1839G>T MANE Plus Clinical | ENSP00000346701.4:p.Met613Ile | |
| ENST00000367255.10:c.25305G>T MANE Select | ENSP00000356224.5:p.Met8435Ile | |
| ENST00000423061.6:c.25161G>T | ENSP00000396024.1:p.Met8387Ile | |
| ENST00000672154.1:c.707G>T | ||
| ENST00000672169.1:c.1040G>T | ||
| ENST00000673173.1:c.949G>T | ||
| ENST00000673451.1:c.1077G>T | ENSP00000500189.1:p.Met359Ile | |
| ENST00000341594.9:c.24090G>T | ENSP00000341887.6:p.Met8030Ile | |
| ENST00000347037.9:n.2053G>T | ||
| ENST00000354674.4:c.1839G>T | ENSP00000346701.4:p.Met613Ile | |
| ENST00000367251.7:c.4140G>T | ENSP00000356220.3:p.Met1380Ile | |
| ENST00000367255.9:c.25305G>T | ENSP00000356224.5:p.Met8435Ile | |
| ENST00000367256.9:n.8997G>T | ||
| ENST00000367257.8:c.3243G>T | ENSP00000356226.4:p.Met1081Ile | |
| ENST00000409694.6:n.8889G>T | ||
| ENST00000423061.5:c.25161G>T | ENSP00000396024.1:p.Met8387Ile | |
| ENST00000460912.6:n.1919G>T | ||
| ENST00000478916.5:n.4327G>T | ||
| ENST00000536990.5:n.2142G>T | ||
| ENST00000539504.5:c.1770G>T | ENSP00000441052.1:p.Met590Ile | |
| NM_033071.3:c.25161G>T | NP_149062.1:p.Met8387Ile | |
| NM_182961.3:c.25305G>T | NP_892006.3:p.Met8435Ile | |
| XM_006715407.1:c.25410G>T | XP_006715470.1:p.Met8470Ile | |
| XM_006715408.1:c.25398G>T | XP_006715471.1:p.Met8466Ile | |
| XM_006715409.1:c.25389G>T | XP_006715472.1:p.Met8463Ile | |
| XM_006715410.1:c.25410G>T | XP_006715473.1:p.Met8470Ile | |
| XM_006715411.1:c.25359G>T | XP_006715474.1:p.Met8453Ile | |
| XM_006715412.1:c.25395G>T | XP_006715475.1:p.Met8465Ile | |
| XM_006715413.1:c.25341G>T | XP_006715476.1:p.Met8447Ile | |
| XM_006715414.1:c.25338G>T | XP_006715477.1:p.Met8446Ile | |
| XM_006715415.1:c.25341G>T | XP_006715478.1:p.Met8447Ile | |
| XM_006715416.1:c.25326G>T | XP_006715479.1:p.Met8442Ile | |
| XM_006715417.1:c.25269G>T | XP_006715480.1:p.Met8423Ile | |
| XM_006715420.1:c.25257G>T | XP_006715483.1:p.Met8419Ile | |
| XM_006715421.1:c.25254G>T | XP_006715484.1:p.Met8418Ile | |
| XM_006715422.1:c.25251G>T | XP_006715485.1:p.Met8417Ile | |
| XM_006715423.1:c.25410G>T | XP_006715486.1:p.Met8470Ile | |
| XM_006715424.1:c.25410G>T | XP_006715487.1:p.Met8470Ile | |
| XM_006715425.1:c.25341G>T | XP_006715488.1:p.Met8447Ile | |
| XM_011535641.1:c.25407G>T | XP_011533943.1:p.Met8469Ile | |
| XM_011535642.1:c.25395G>T | XP_011533944.1:p.Met8465Ile | |
| XM_011535643.1:c.25245G>T | XP_011533945.1:p.Met8415Ile | |
| XM_011535644.1:c.23685G>T | XP_011533946.1:p.Met7895Ile | |
| XM_011535645.1:c.23178G>T | XP_011533947.1:p.Met7726Ile | |
| XM_011535647.1:c.18645G>T | XP_011533949.1:p.Met6215Ile | |
| NM_001347701.1:c.1911G>T | NP_001334630.1:p.Met637Ile | |
| NM_001347702.1:c.1839G>T | NP_001334631.1:p.Met613Ile | |
| XM_006715408.2:c.25398G>T | XP_006715471.1:p.Met8466Ile | |
| XM_006715410.2:c.25410G>T | XP_006715473.1:p.Met8470Ile | |
| XM_006715412.2:c.25395G>T | XP_006715475.1:p.Met8465Ile | |
| XM_006715413.2:c.25341G>T | XP_006715476.1:p.Met8447Ile | |
| XM_006715415.2:c.25341G>T | XP_006715478.1:p.Met8447Ile | |
| XM_006715416.2:c.25326G>T | XP_006715479.1:p.Met8442Ile | |
| XM_006715417.2:c.25269G>T | XP_006715480.1:p.Met8423Ile | |
| XM_006715420.2:c.25257G>T | XP_006715483.1:p.Met8419Ile | |
| XM_006715421.2:c.25254G>T | XP_006715484.1:p.Met8418Ile | |
| XM_006715423.2:c.25410G>T | XP_006715486.1:p.Met8470Ile | |
| XM_006715424.2:c.25410G>T | XP_006715487.1:p.Met8470Ile | |
| XM_006715425.2:c.25341G>T | XP_006715488.1:p.Met8447Ile | |
| XM_011535641.2:c.25407G>T | XP_011533943.1:p.Met8469Ile | |
| XM_011535642.2:c.25395G>T | XP_011533944.1:p.Met8465Ile | |
| XM_011535645.2:c.23178G>T | XP_011533947.1:p.Met7726Ile | |
| XM_017010608.1:c.25410G>T | XP_016866097.1:p.Met8470Ile | |
| XM_017010609.1:c.25410G>T | XP_016866098.1:p.Met8470Ile | |
| XM_017010610.1:c.25389G>T | XP_016866099.1:p.Met8463Ile | |
| XM_017010611.2:c.25383G>T | XP_016866100.1:p.Met8461Ile | |
| XM_017010612.1:c.25332G>T | XP_016866101.1:p.Met8444Ile | |
| XM_017010613.1:c.25338G>T | XP_016866102.1:p.Met8446Ile | |
| XM_017010614.1:c.25254G>T | XP_016866103.1:p.Met8418Ile | |
| XM_017010615.1:c.25185G>T | XP_016866104.1:p.Met8395Ile | |
| XM_017010616.1:c.25341G>T | XP_016866105.1:p.Met8447Ile | |
| XM_017010617.1:c.25338G>T | XP_016866106.1:p.Met8446Ile | |
| XM_017010618.1:c.25326G>T | XP_016866107.1:p.Met8442Ile | |
| XM_017010619.1:c.23685G>T | XP_016866108.1:p.Met7895Ile | |
| NM_182961.4:c.25305G>T MANE Select | NP_892006.3:p.Met8435Ile | |
| NM_001347701.2:c.1911G>T | NP_001334630.1:p.Met637Ile | |
| NM_001347702.2:c.1839G>T MANE Plus Clinical | NP_001334631.1:p.Met613Ile | |
| NM_033071.5:c.25161G>T | NP_149062.2:p.Met8387Ile |