Linked Data
ClinVar Variation Id:
3019195
ClinVar RCV Id:
RCV003871826
dbSNP Id:
rs1172317151
gnomAD v2:
19-4099201-C-A
gnomAD v3:
19-4099203-C-A
gnomAD v4:
19-4099203-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4099203C>A , CM000681.2:g.4099203C>A | GRCh38 |
| NC_000019.9:g.4099201C>A , CM000681.1:g.4099201C>A | GRCh37 |
| NC_000019.8:g.4050201C>A | NCBI36 |
| NG_007996.1:g.29926G>T , LRG_750:g.29926G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.1356G>T | ||
| ENST00000687128.1:n.1356G>T | ||
| ENST00000688002.1:n.1211G>T | ||
| ENST00000689792.1:n.821G>T | ||
| ENST00000262948.10:c.917G>T MANE Select | ENSP00000262948.4:p.Ser306Ile | |
| ENST00000262948.9:c.917G>T | ENSP00000262948.3:p.Ser306Ile | |
| ENST00000394867.8:c.626G>T | ENSP00000378336.1:p.Ser209Ile | |
| ENST00000593364.5:n.864G>T | ||
| ENST00000595715.1:n.732G>T | ||
| ENST00000597263.5:n.169+1816G>T | ||
| ENST00000599021.1:c.29+1816G>T | ||
| ENST00000600584.5:n.1477G>T | ||
| ENST00000601786.5:n.1218G>T | ||
| NM_030662.3:c.917G>T , LRG_750t1:c.917G>T | NP_109587.1:p.Ser306Ile | |
| XM_006722799.2:c.705+1816G>T | XP_006722862.1:n.705+1816G>T | |
| XM_011528133.1:c.347G>T | XP_011526435.1:p.Ser116Ile | |
| XM_017026989.1:c.917G>T | XP_016882478.1:p.Ser306Ile | |
| XM_017026990.1:c.705+1816G>T | XP_016882479.1:n.705+1816G>T | |
| NM_030662.4:c.917G>T MANE Select | NP_109587.1:p.Ser306Ile |