Linked Data
ClinVar Variation Id:
2854465
ClinVar RCV Id:
RCV003628592
dbSNP Id:
rs2107939495
MyVariant Identifiers:
chr3:g.58416454C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58430727C>T , CM000665.2:g.58430727C>T | GRCh38 |
| NC_000003.11:g.58416454C>T , CM000665.1:g.58416454C>T | GRCh37 |
| NC_000003.10:g.58391494C>T | NCBI36 |
| NG_016860.1:g.8126G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302746.11:c.519G>A MANE Select | ENSP00000307241.6:p.Lys173= | |
| ENST00000302746.10:c.519G>A | ENSP00000307241.6:p.Lys173= | |
| ENST00000383714.8:c.465G>A | ENSP00000373220.4:p.Lys155= | |
| ENST00000461692.5:n.632G>A | ||
| ENST00000469364.5:c.519G>A | ENSP00000419580.1:p.Lys173= | |
| ENST00000474765.1:c.465G>A | ENSP00000418448.1:p.Lys155= | |
| ENST00000479945.1:n.2924G>A | ||
| ENST00000480626.5:n.611G>A | ||
| ENST00000485460.5:c.465G>A | ENSP00000417267.1:p.Lys155= | |
| NM_000925.3:c.519G>A | NP_000916.2:p.Lys173= | |
| NM_001173468.1:c.465G>A | NP_001166939.1:p.Lys155= | |
| NM_001315536.1:c.465G>A | NP_001302465.1:p.Lys155= | |
| NR_033384.1:n.632G>A | ||
| NM_000925.4:c.519G>A MANE Select | NP_000916.2:p.Lys173= | |
| NM_001173468.2:c.465G>A | NP_001166939.1:p.Lys155= | |
| NM_001315536.2:c.465G>A | NP_001302465.1:p.Lys155= | |
| NR_033384.2:n.625G>A |