Linked Data
ClinVar Variation Id:
891552
ClinVar RCV Id:
RCV001126908
dbSNP Id:
rs2034193297
gnomAD v4:
19-18062246-G-A
MyVariant Identifiers:
chr19:g.18173056G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18062246G>A , CM000681.2:g.18062246G>A | GRCh38 |
| NC_000019.9:g.18173056G>A , CM000681.1:g.18173056G>A | GRCh37 |
| NC_000019.8:g.18034056G>A | NCBI36 |
| NG_007366.2:g.41704C>T , LRG_72:g.41704C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593993.7:c.1650C>T MANE Select | ENSP00000472165.2:p.Phe550= | |
| ENST00000593993.6:c.1650C>T | ENSP00000472165.2:p.Phe550= | |
| ENST00000600835.6:c.1650C>T | ENSP00000470788.1:p.Phe550= | |
| NM_001290023.1:c.1650C>T | NP_001276952.1:p.Phe550= | |
| NM_001290024.1:c.1770C>T | NP_001276953.1:p.Phe590= | |
| NM_005535.2:c.1650C>T | NP_005526.1:p.Phe550= | |
| XM_006722741.2:c.1770C>T | XP_006722804.2:p.Phe590= | |
| XM_011527966.1:c.1803C>T | XP_011526268.1:p.Phe601= | |
| XM_011527967.1:c.1791C>T | XP_011526269.1:p.Phe597= | |
| XM_011527968.1:c.1782C>T | XP_011526270.1:p.Phe594= | |
| XM_011527969.1:c.1770C>T | XP_011526271.1:p.Phe590= | |
| XM_011527970.1:c.1803C>T | XP_011526272.1:p.Phe601= | |
| XM_011527971.1:c.1803C>T | XP_011526273.1:p.Phe601= | |
| XM_011527972.1:c.1803C>T | XP_011526274.1:p.Phe601= | |
| XM_011527973.1:c.1683C>T | XP_011526275.1:p.Phe561= | |
| XM_011527974.1:c.1671C>T | XP_011526276.1:p.Phe557= | |
| XM_011527975.1:c.1770C>T | XP_011526277.1:p.Phe590= | |
| XM_006722741.3:c.1770C>T | XP_006722804.2:p.Phe590= | |
| XM_011527966.2:c.1803C>T | XP_011526268.1:p.Phe601= | |
| XM_011527967.2:c.1791C>T | XP_011526269.1:p.Phe597= | |
| XM_011527968.3:c.1782C>T | XP_011526270.1:p.Phe594= | |
| XM_011527969.2:c.1770C>T | XP_011526271.1:p.Phe590= | |
| XM_011527970.2:c.1803C>T | XP_011526272.1:p.Phe601= | |
| XM_011527971.3:c.1803C>T | XP_011526273.1:p.Phe601= | |
| XM_011527972.3:c.1803C>T | XP_011526274.1:p.Phe601= | |
| XM_011527973.2:c.1683C>T | XP_011526275.1:p.Phe561= | |
| XM_011527974.2:c.1671C>T | XP_011526276.1:p.Phe557= | |
| XM_011527975.2:c.1770C>T | XP_011526277.1:p.Phe590= | |
| XM_017026762.1:c.1068C>T | XP_016882251.1:p.Phe356= | |
| NM_001290023.2:c.1650C>T | NP_001276952.1:p.Phe550= | |
| NM_005535.3:c.1650C>T MANE Select | NP_005526.1:p.Phe550= |