Linked Data
ClinVar Variation Id:
4094
dbSNP Id:
rs104893916
ExAC:
5:149361189 G / T
gnomAD v2:
5-149361189-G-T
gnomAD v3:
5-149981626-G-T
gnomAD v4:
5-149981626-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981626G>T , CM000667.2:g.149981626G>T | GRCh38 |
| NC_000005.9:g.149361189G>T , CM000667.1:g.149361189G>T | GRCh37 |
| NC_000005.8:g.149341382G>T | NCBI36 |
| NG_007147.2:g.22744G>T , LRG_684:g.22744G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286298.5:c.2033G>T MANE Select | ENSP00000286298.4:p.Gly678Val | |
| ENST00000286298.4:c.2033G>T | ENSP00000286298.4:p.Gly678Val | |
| ENST00000503336.1:c.372+3275G>T | ENSP00000426053.1:n.372+3275G>T | |
| NM_000112.3:c.2033G>T , LRG_684t1:c.2033G>T | NP_000103.2:p.Gly678Val | |
| XM_017009191.2:c.2033G>T | XP_016864680.1:p.Gly678Val | |
| NM_000112.4:c.2033G>T MANE Select | NP_000103.2:p.Gly678Val |