Linked Data
ClinVar Variation Id:
2436672
ClinVar RCV Id:
RCV003139008
dbSNP Id:
rs119103247
ExAC:
6:152462425 C / T
gnomAD v2:
6-152462425-C-T
gnomAD v3:
6-152141290-C-T
gnomAD v4:
6-152141290-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152141290C>T , CM000668.2:g.152141290C>T | GRCh38 |
| NC_000006.11:g.152462425C>T , CM000668.1:g.152462425C>T | GRCh37 |
| NC_000006.10:g.152504118C>T | NCBI36 |
| NG_012855.1:g.501110G>A | |
| NG_012855.2:g.501110G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.1693G>A MANE Plus Clinical | ENSP00000346701.4:p.Val565Met | |
| ENST00000367255.10:c.25159G>A MANE Select | ENSP00000356224.5:p.Val8387Met | |
| ENST00000423061.6:c.25015G>A | ENSP00000396024.1:p.Val8339Met | |
| ENST00000672154.1:c.561G>A | ||
| ENST00000672169.1:c.894G>A | ||
| ENST00000673173.1:c.891-1129G>A | ||
| ENST00000673451.1:c.931G>A | ENSP00000500189.1:p.Val311Met | |
| ENST00000341594.9:c.23944G>A | ENSP00000341887.6:p.Val7982Met | |
| ENST00000347037.9:n.1907G>A | ||
| ENST00000354674.4:c.1693G>A | ENSP00000346701.4:p.Val565Met | |
| ENST00000367251.7:c.3994G>A | ENSP00000356220.3:p.Val1332Met | |
| ENST00000367255.9:c.25159G>A | ENSP00000356224.5:p.Val8387Met | |
| ENST00000367256.9:n.8851G>A | ||
| ENST00000367257.8:c.3097G>A | ENSP00000356226.4:p.Val1033Met | |
| ENST00000409694.6:n.8743G>A | ||
| ENST00000423061.5:c.25015G>A | ENSP00000396024.1:p.Val8339Met | |
| ENST00000460912.6:n.1773G>A | ||
| ENST00000478916.5:n.4181G>A | ||
| ENST00000536990.5:n.1996G>A | ||
| ENST00000539504.5:c.1624G>A | ENSP00000441052.1:p.Val542Met | |
| NM_033071.3:c.25015G>A | NP_149062.1:p.Val8339Met | |
| NM_182961.3:c.25159G>A | NP_892006.3:p.Val8387Met | |
| XM_006715407.1:c.25264G>A | XP_006715470.1:p.Val8422Met | |
| XM_006715408.1:c.25252G>A | XP_006715471.1:p.Val8418Met | |
| XM_006715409.1:c.25243G>A | XP_006715472.1:p.Val8415Met | |
| XM_006715410.1:c.25264G>A | XP_006715473.1:p.Val8422Met | |
| XM_006715411.1:c.25213G>A | XP_006715474.1:p.Val8405Met | |
| XM_006715412.1:c.25249G>A | XP_006715475.1:p.Val8417Met | |
| XM_006715413.1:c.25195G>A | XP_006715476.1:p.Val8399Met | |
| XM_006715414.1:c.25192G>A | XP_006715477.1:p.Val8398Met | |
| XM_006715415.1:c.25195G>A | XP_006715478.1:p.Val8399Met | |
| XM_006715416.1:c.25180G>A | XP_006715479.1:p.Val8394Met | |
| XM_006715417.1:c.25123G>A | XP_006715480.1:p.Val8375Met | |
| XM_006715420.1:c.25111G>A | XP_006715483.1:p.Val8371Met | |
| XM_006715421.1:c.25108G>A | XP_006715484.1:p.Val8370Met | |
| XM_006715422.1:c.25105G>A | XP_006715485.1:p.Val8369Met | |
| XM_006715423.1:c.25264G>A | XP_006715486.1:p.Val8422Met | |
| XM_006715424.1:c.25264G>A | XP_006715487.1:p.Val8422Met | |
| XM_006715425.1:c.25195G>A | XP_006715488.1:p.Val8399Met | |
| XM_011535641.1:c.25261G>A | XP_011533943.1:p.Val8421Met | |
| XM_011535642.1:c.25249G>A | XP_011533944.1:p.Val8417Met | |
| XM_011535643.1:c.25099G>A | XP_011533945.1:p.Val8367Met | |
| XM_011535644.1:c.23539G>A | XP_011533946.1:p.Val7847Met | |
| XM_011535645.1:c.23032G>A | XP_011533947.1:p.Val7678Met | |
| XM_011535647.1:c.18499G>A | XP_011533949.1:p.Val6167Met | |
| NM_001347701.1:c.1765G>A | NP_001334630.1:p.Val589Met | |
| NM_001347702.1:c.1693G>A | NP_001334631.1:p.Val565Met | |
| XM_006715408.2:c.25252G>A | XP_006715471.1:p.Val8418Met | |
| XM_006715410.2:c.25264G>A | XP_006715473.1:p.Val8422Met | |
| XM_006715412.2:c.25249G>A | XP_006715475.1:p.Val8417Met | |
| XM_006715413.2:c.25195G>A | XP_006715476.1:p.Val8399Met | |
| XM_006715415.2:c.25195G>A | XP_006715478.1:p.Val8399Met | |
| XM_006715416.2:c.25180G>A | XP_006715479.1:p.Val8394Met | |
| XM_006715417.2:c.25123G>A | XP_006715480.1:p.Val8375Met | |
| XM_006715420.2:c.25111G>A | XP_006715483.1:p.Val8371Met | |
| XM_006715421.2:c.25108G>A | XP_006715484.1:p.Val8370Met | |
| XM_006715423.2:c.25264G>A | XP_006715486.1:p.Val8422Met | |
| XM_006715424.2:c.25264G>A | XP_006715487.1:p.Val8422Met | |
| XM_006715425.2:c.25195G>A | XP_006715488.1:p.Val8399Met | |
| XM_011535641.2:c.25261G>A | XP_011533943.1:p.Val8421Met | |
| XM_011535642.2:c.25249G>A | XP_011533944.1:p.Val8417Met | |
| XM_011535645.2:c.23032G>A | XP_011533947.1:p.Val7678Met | |
| XM_017010608.1:c.25264G>A | XP_016866097.1:p.Val8422Met | |
| XM_017010609.1:c.25264G>A | XP_016866098.1:p.Val8422Met | |
| XM_017010610.1:c.25243G>A | XP_016866099.1:p.Val8415Met | |
| XM_017010611.2:c.25237G>A | XP_016866100.1:p.Val8413Met | |
| XM_017010612.1:c.25186G>A | XP_016866101.1:p.Val8396Met | |
| XM_017010613.1:c.25192G>A | XP_016866102.1:p.Val8398Met | |
| XM_017010614.1:c.25108G>A | XP_016866103.1:p.Val8370Met | |
| XM_017010615.1:c.25039G>A | XP_016866104.1:p.Val8347Met | |
| XM_017010616.1:c.25195G>A | XP_016866105.1:p.Val8399Met | |
| XM_017010617.1:c.25192G>A | XP_016866106.1:p.Val8398Met | |
| XM_017010618.1:c.25180G>A | XP_016866107.1:p.Val8394Met | |
| XM_017010619.1:c.23539G>A | XP_016866108.1:p.Val7847Met | |
| NM_182961.4:c.25159G>A MANE Select | NP_892006.3:p.Val8387Met | |
| NM_001347701.2:c.1765G>A | NP_001334630.1:p.Val589Met | |
| NM_001347702.2:c.1693G>A MANE Plus Clinical | NP_001334631.1:p.Val565Met | |
| NM_033071.5:c.25015G>A | NP_149062.2:p.Val8339Met |