Linked Data
ClinVar Variation Id:
1687048
ClinVar RCV Id:
RCV002291809
dbSNP Id:
rs45511401
ExAC:
16:16173232 G / T
gnomAD v2:
16-16173232-G-T
gnomAD v3:
16-16079375-G-T
gnomAD v4:
16-16079375-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16079375G>T , CM000678.2:g.16079375G>T | GRCh38 |
| NC_000016.9:g.16173232G>T , CM000678.1:g.16173232G>T | GRCh37 |
| NC_000016.8:g.16080733G>T | NCBI36 |
| NG_028268.1:g.134799G>T | |
| NG_028268.2:g.134799G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399408.7:c.2012G>T | ENSP00000382340.4:p.Gly671Val | |
| ENST00000399410.8:c.2012G>T MANE Select | ENSP00000382342.3:p.Gly671Val | |
| ENST00000572882.3:c.2012G>T | ENSP00000461615.2:p.Gly671Val | |
| ENST00000677164.1:c.1886G>T | ENSP00000502873.1:p.Gly629Val | |
| ENST00000678422.1:c.2012G>T | ENSP00000503954.1:p.Gly671Val | |
| ENST00000399408.6:c.1034G>T | ENSP00000382340.3:p.Gly345Val | |
| ENST00000399410.7:c.2012G>T | ENSP00000382342.3:p.Gly671Val | |
| ENST00000572882.2:c.1707G>T | ||
| ENST00000575422.5:n.252G>T | ||
| NM_004996.3:c.2012G>T | NP_004987.2:p.Gly671Val | |
| XM_011522497.1:c.1988G>T | XP_011520799.1:p.Gly663Val | |
| XM_011522498.1:c.1919G>T | XP_011520800.1:p.Gly640Val | |
| XM_011522498.2:c.1919G>T | XP_011520800.1:p.Gly640Val | |
| XM_017023237.1:c.2066G>T | XP_016878726.1:p.Gly689Val | |
| XM_017023238.1:c.1940G>T | XP_016878727.1:p.Gly647Val | |
| XM_017023239.1:c.1928G>T | XP_016878728.1:p.Gly643Val | |
| XM_017023240.1:c.2066G>T | XP_016878729.1:p.Gly689Val | |
| XM_017023241.1:c.1802G>T | XP_016878730.1:p.Gly601Val | |
| XM_017023242.1:c.2066G>T | XP_016878731.1:p.Gly689Val | |
| XM_017023243.2:c.2066G>T | XP_016878732.1:p.Gly689Val | |
| NM_004996.4:c.2012G>T MANE Select | NP_004987.2:p.Gly671Val |