Linked Data
ClinVar Variation Id:
358345
dbSNP Id:
rs201060425
ExAC:
7:103015015 C / T
gnomAD v2:
7-103015015-C-T
gnomAD v3:
7-103374568-C-T
gnomAD v4:
7-103374568-C-T
COSMIC:
COSM1083575
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103374568C>T , CM000669.2:g.103374568C>T | GRCh38 |
| NC_000007.13:g.103015015C>T , CM000669.1:g.103015015C>T | GRCh37 |
| NC_000007.12:g.102802251C>T | NCBI36 |
| NG_023055.1:g.76610G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306312.8:c.2066G>A MANE Select | ENSP00000304783.3:p.Arg689Gln | |
| ENST00000306312.7:c.2066G>A | ENSP00000304783.3:p.Arg689Gln | |
| ENST00000339444.10:c.2041+2240G>A | ENSP00000342396.6:n.2041+2240G>A | |
| ENST00000354356.8:c.2072G>A | ENSP00000346325.5:p.Arg691Gln | |
| ENST00000356767.8:c.972-21642G>A | ENSP00000349210.4:n.972-21642G>A | |
| ENST00000393723.2:c.1976G>A | ENSP00000377324.1:p.Arg659Gln | |
| ENST00000393727.5:c.2072G>A | ENSP00000377328.1:p.Arg691Gln | |
| ENST00000393729.5:c.1955G>A | ENSP00000377330.1:p.Arg652Gln | |
| ENST00000393730.5:c.1970G>A | ENSP00000377331.1:p.Arg657Gln | |
| ENST00000393735.6:c.1514+14440G>A | ENSP00000377336.2:n.1514+14440G>A | |
| ENST00000423416.5:c.*478G>A | ENSP00000389018.1:n.*478G>A | |
| ENST00000432958.6:c.1970G>A | ENSP00000389733.2:p.Arg657Gln | |
| ENST00000445809.5:c.*1049G>A | ENSP00000396833.1:n.*1049G>A | |
| ENST00000454864.5:c.*370G>A | ENSP00000416502.1:n.*370G>A | |
| ENST00000456463.5:c.*1267G>A | ENSP00000395568.1:n.*1267G>A | |
| NM_001167962.1:c.1970G>A | NP_001161434.1:p.Arg657Gln | |
| NM_198999.2:c.2066G>A | NP_945350.1:p.Arg689Gln | |
| NM_206883.2:c.2041+2240G>A | NP_996766.1:n.2041+2240G>A | |
| NM_206884.2:c.1514+14440G>A | NP_996767.1:n.1514+14440G>A | |
| NM_206885.2:c.972-21642G>A | NP_996768.1:n.972-21642G>A | |
| NR_120441.1:n.2082G>A | ||
| NR_120442.1:n.1978G>A | ||
| NR_120443.1:n.1896G>A | ||
| XM_011516170.1:c.2066G>A | XP_011514472.1:p.Arg689Gln | |
| NM_001321787.1:c.1945+2240G>A | NP_001308716.1:n.1945+2240G>A | |
| NR_135801.1:n.2084G>A | ||
| NR_135802.1:n.2137+2240G>A | ||
| XM_011516170.3:c.2066G>A | XP_011514472.1:p.Arg689Gln | |
| XR_001744725.2:n.2258G>A | ||
| XR_001744726.1:n.3023+2240G>A | ||
| XR_001744727.2:n.2162G>A | ||
| NM_001321787.2:c.1945+2240G>A | NP_001308716.1:n.1945+2240G>A | |
| NM_198999.3:c.2066G>A MANE Select | NP_945350.1:p.Arg689Gln | |
| NM_206883.3:c.2041+2240G>A | NP_996766.1:n.2041+2240G>A | |
| NM_206884.3:c.1514+14440G>A | NP_996767.1:n.1514+14440G>A | |
| NM_206885.3:c.972-21642G>A | NP_996768.1:n.972-21642G>A | |
| NR_135802.2:n.2167+2240G>A | ||
| NM_001167962.2:c.1970G>A | NP_001161434.1:p.Arg657Gln | |
| NR_135801.2:n.2114G>A |