Linked Data
dbSNP Id:
rs886038700
gnomAD v4:
19-4099316-G-T
MyVariant Identifiers:
chr19:g.4099314G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4099316G>T , CM000681.2:g.4099316G>T | GRCh38 |
| NC_000019.9:g.4099314G>T , CM000681.1:g.4099314G>T | GRCh37 |
| NC_000019.8:g.4050314G>T | NCBI36 |
| NG_007996.1:g.29813C>A , LRG_750:g.29813C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1243C>A | ||
| ENST00000687128.1:n.1243C>A | ||
| ENST00000688002.1:n.1098C>A | ||
| ENST00000689792.1:n.708C>A | ||
| ENST00000262948.10:c.804C>A MANE Select | ENSP00000262948.4:p.Pro268= | |
| ENST00000262948.9:c.804C>A | ENSP00000262948.3:p.Pro268= | |
| ENST00000394867.8:c.513C>A | ENSP00000378336.1:p.Pro171= | |
| ENST00000593364.5:n.751C>A | ||
| ENST00000595715.1:n.619C>A | ||
| ENST00000597263.5:n.169+1703C>A | ||
| ENST00000599021.1:c.29+1703C>A | ||
| ENST00000600584.5:n.1364C>A | ||
| ENST00000601786.5:n.1105C>A | ||
| NM_030662.3:c.804C>A , LRG_750t1:c.804C>A | NP_109587.1:p.Pro268= | |
| XM_006722799.2:c.705+1703C>A | XP_006722862.1:n.705+1703C>A | |
| XM_011528133.1:c.234C>A | XP_011526435.1:p.Pro78= | |
| XM_017026989.1:c.804C>A | XP_016882478.1:p.Pro268= | |
| XM_017026990.1:c.705+1703C>A | XP_016882479.1:n.705+1703C>A | |
| NM_030662.4:c.804C>A MANE Select | NP_109587.1:p.Pro268= |