Linked Data
ClinVar Variation Id:
191014
dbSNP Id:
rs786205465
gnomAD v2:
10-101578548-G-T
gnomAD v4:
10-99818791-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99818791G>T , CM000672.2:g.99818791G>T | GRCh38 |
| NC_000010.10:g.101578548G>T , CM000672.1:g.101578548G>T | GRCh37 |
| NC_000010.9:g.101568538G>T | NCBI36 |
| NG_011798.1:g.41086G>T | |
| NG_011798.2:g.41194G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647814.1:c.2273G>T MANE Select | ENSP00000497274.1:p.Gly758Val | |
| ENST00000370449.8:c.2273G>T | ENSP00000359478.4:p.Gly758Val | |
| NM_000392.4:c.2273G>T | NP_000383.1:p.Gly758Val | |
| XM_006717630.2:c.1577G>T | XP_006717693.1:p.Gly526Val | |
| XM_006717631.2:c.2273G>T | XP_006717694.1:p.Gly758Val | |
| XM_011539291.1:c.2273G>T | XP_011537593.1:p.Gly758Val | |
| XR_945604.1:n.2462G>T | ||
| XR_945605.1:n.2464G>T | ||
| NM_000392.5:c.2273G>T MANE Select | NP_000383.2:p.Gly758Val | |
| XM_006717630.3:c.1577G>T | XP_006717693.1:p.Gly526Val | |
| XM_006717631.4:c.2273G>T | XP_006717694.1:p.Gly758Val | |
| XM_011539291.3:c.2273G>T | XP_011537593.1:p.Gly758Val | |
| XM_017015675.2:c.2273G>T | XP_016871164.1:p.Gly758Val | |
| XR_945604.3:n.2516G>T | ||
| XR_945605.3:n.2516G>T |