Linked Data
ClinVar Variation Id:
2908595
ClinVar RCV Id:
RCV003654796
MyVariant Identifiers:
chr19:g.4095391A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4095393A>G , CM000681.2:g.4095393A>G | GRCh38 |
| NC_000019.9:g.4095391A>G , CM000681.1:g.4095391A>G | GRCh37 |
| NC_000019.8:g.4046391A>G | NCBI36 |
| NG_007996.1:g.33736T>C , LRG_750:g.33736T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1480T>C | ||
| ENST00000688002.1:n.3192T>C | ||
| ENST00000688751.1:n.177T>C | ||
| ENST00000689792.1:n.945T>C | ||
| ENST00000262948.10:c.1041T>C MANE Select | ENSP00000262948.4:p.Asn347= | |
| ENST00000262948.9:c.1041T>C | ENSP00000262948.3:p.Asn347= | |
| ENST00000394867.8:c.750T>C | ENSP00000378336.1:p.Asn250= | |
| ENST00000595715.1:n.856T>C | ||
| ENST00000597263.5:n.226T>C | ||
| ENST00000599021.1:c.151T>C | ||
| ENST00000600584.5:n.1601T>C | ||
| ENST00000601786.5:n.1342T>C | ||
| NM_030662.3:c.1041T>C , LRG_750t1:c.1041T>C | NP_109587.1:p.Asn347= | |
| XM_006722799.2:c.762T>C | XP_006722862.1:p.Asn254= | |
| XM_011528133.1:c.471T>C | XP_011526435.1:p.Asn157= | |
| XM_017026989.1:c.1041T>C | XP_016882478.1:p.Asn347= | |
| XM_017026990.1:c.762T>C | XP_016882479.1:p.Asn254= | |
| NM_030662.4:c.1041T>C MANE Select | NP_109587.1:p.Asn347= |