Linked Data
ClinVar Variation Id:
258602
dbSNP Id:
rs756535650
ExAC:
3:49163592 G / A
gnomAD v2:
3-49163592-G-A
gnomAD v3:
3-49126159-G-A
gnomAD v4:
3-49126159-G-A
COSMIC:
COSM4158135
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49126159G>A , CM000665.2:g.49126159G>A | GRCh38 |
| NC_000003.11:g.49163592G>A , CM000665.1:g.49163592G>A | GRCh37 |
| NC_000003.10:g.49138596G>A | NCBI36 |
| NG_008094.1:g.12008C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2152C>T MANE Select | ENSP00000307156.4:p.Leu718= | |
| ENST00000305544.8:c.2152C>T | ENSP00000307156.4:p.Leu718= | |
| ENST00000418109.5:c.2152C>T | ENSP00000388325.1:p.Leu718= | |
| ENST00000477701.1:n.25C>T | ||
| ENST00000486298.5:n.233C>T | ||
| ENST00000493571.1:n.62C>T | ||
| NM_002292.3:c.2152C>T | NP_002283.3:p.Leu718= | |
| XM_005265127.3:c.2152C>T | XP_005265184.1:p.Leu718= | |
| XM_005265127.4:c.2152C>T | XP_005265184.1:p.Leu718= | |
| NM_002292.4:c.2152C>T MANE Select | NP_002283.3:p.Leu718= |