Linked Data
ClinVar Variation Id:
1554431
ClinVar RCV Id:
RCV002190163
dbSNP Id:
rs2108146783
MyVariant Identifiers:
chr3:g.135980883G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136262041G>A , CM000665.2:g.136262041G>A | GRCh38 |
| NC_000003.11:g.135980883G>A , CM000665.1:g.135980883G>A | GRCh37 |
| NC_000003.10:g.137463573G>A | NCBI36 |
| NG_008939.1:g.16717G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.519G>A MANE Select | ENSP00000251654.4:p.Leu173= | |
| ENST00000251654.8:c.519G>A | ENSP00000251654.4:p.Leu173= | |
| ENST00000459873.1:c.270G>A | ENSP00000419293.1:p.Leu90= | |
| ENST00000462542.5:c.386G>A | ||
| ENST00000462637.5:c.450G>A | ENSP00000420391.1:p.Leu150= | |
| ENST00000465176.5:n.481G>A | ||
| ENST00000466072.5:c.519G>A | ENSP00000420158.1:p.Leu173= | |
| ENST00000468777.5:c.612G>A | ENSP00000419129.1:p.Leu204= | |
| ENST00000469217.5:c.579G>A | ENSP00000419027.1:p.Leu193= | |
| ENST00000471595.5:c.519G>A | ENSP00000417549.1:p.Leu173= | |
| ENST00000473073.1:n.476G>A | ||
| ENST00000474833.5:n.168+11483G>A | ||
| ENST00000475214.5:n.433G>A | ||
| ENST00000478469.5:c.519G>A | ENSP00000420759.1:p.Leu173= | |
| ENST00000482086.5:c.171G>A | ENSP00000417253.1:p.Leu57= | |
| ENST00000483687.5:c.462G>A | ENSP00000420639.1:p.Leu154= | |
| ENST00000484181.5:c.519G>A | ENSP00000417937.1:p.Leu173= | |
| ENST00000490504.5:c.372+5418G>A | ENSP00000418307.1:n.372+5418G>A | |
| NM_000532.4:c.519G>A | NP_000523.2:p.Leu173= | |
| NM_001178014.1:c.579G>A | NP_001171485.1:p.Leu193= | |
| XM_011512873.1:c.519G>A | XP_011511175.1:p.Leu173= | |
| XM_011512873.2:c.519G>A | XP_011511175.1:p.Leu173= | |
| NM_000532.5:c.519G>A MANE Select | NP_000523.2:p.Leu173= | |
| NM_001178014.2:c.579G>A | NP_001171485.1:p.Leu193= |