Linked Data
dbSNP Id:
rs770218947
ExAC:
19:4099333 A / C
gnomAD v2:
19-4099333-A-C
gnomAD v4:
19-4099335-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4099335A>C , CM000681.2:g.4099335A>C | GRCh38 |
| NC_000019.9:g.4099333A>C , CM000681.1:g.4099333A>C | GRCh37 |
| NC_000019.8:g.4050333A>C | NCBI36 |
| NG_007996.1:g.29794T>G , LRG_750:g.29794T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1224T>G | ||
| ENST00000687128.1:n.1224T>G | ||
| ENST00000688002.1:n.1079T>G | ||
| ENST00000689792.1:n.689T>G | ||
| ENST00000262948.10:c.785T>G MANE Select | ENSP00000262948.4:p.Val262Gly | |
| ENST00000262948.9:c.785T>G | ENSP00000262948.3:p.Val262Gly | |
| ENST00000394867.8:c.494T>G | ENSP00000378336.1:p.Val165Gly | |
| ENST00000593364.5:n.732T>G | ||
| ENST00000595715.1:n.600T>G | ||
| ENST00000597263.5:n.169+1684T>G | ||
| ENST00000599021.1:c.29+1684T>G | ||
| ENST00000600584.5:n.1345T>G | ||
| ENST00000601786.5:n.1086T>G | ||
| NM_030662.3:c.785T>G , LRG_750t1:c.785T>G | NP_109587.1:p.Val262Gly | |
| XM_006722799.2:c.705+1684T>G | XP_006722862.1:n.705+1684T>G | |
| XM_011528133.1:c.215T>G | XP_011526435.1:p.Val72Gly | |
| XM_017026989.1:c.785T>G | XP_016882478.1:p.Val262Gly | |
| XM_017026990.1:c.705+1684T>G | XP_016882479.1:n.705+1684T>G | |
| NM_030662.4:c.785T>G MANE Select | NP_109587.1:p.Val262Gly |