Linked Data
ClinVar Variation Id:
2382935
ClinVar RCV Id:
RCV002689090
dbSNP Id:
rs566576601
ExAC:
19:18170715 A / G
gnomAD v2:
19-18170715-A-G
gnomAD v3:
19-18059905-A-G
gnomAD v4:
19-18059905-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18059905A>G , CM000681.2:g.18059905A>G | GRCh38 |
| NC_000019.9:g.18170715A>G , CM000681.1:g.18170715A>G | GRCh37 |
| NC_000019.8:g.18031715A>G | NCBI36 |
| NG_007366.2:g.44045T>C , LRG_72:g.44045T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593993.7:c.1972T>C MANE Select | ENSP00000472165.2:p.Cys658Arg | |
| ENST00000593993.6:c.1972T>C | ENSP00000472165.2:p.Cys658Arg | |
| ENST00000600835.6:c.1972T>C | ENSP00000470788.1:p.Cys658Arg | |
| NM_001290023.1:c.1970+2T>C | NP_001276952.1:n.1970+2T>C | |
| NM_001290024.1:c.2092T>C | NP_001276953.1:p.Cys698Arg | |
| NM_005535.2:c.1972T>C | NP_005526.1:p.Cys658Arg | |
| XM_006722741.2:c.2092T>C | XP_006722804.2:p.Cys698Arg | |
| XM_011527966.1:c.2123+2T>C | XP_011526268.1:n.2123+2T>C | |
| XM_011527967.1:c.2111+2T>C | XP_011526269.1:n.2111+2T>C | |
| XM_011527968.1:c.2102+2T>C | XP_011526270.1:n.2102+2T>C | |
| XM_011527969.1:c.2090+2T>C | XP_011526271.1:n.2090+2T>C | |
| XM_011527970.1:c.2125T>C | XP_011526272.1:p.Cys709Arg | |
| XM_011527971.1:c.2125T>C | XP_011526273.1:p.Cys709Arg | |
| XM_011527972.1:c.2123+2T>C | XP_011526274.1:n.2123+2T>C | |
| XM_011527973.1:c.2003+2T>C | XP_011526275.1:n.2003+2T>C | |
| XM_011527974.1:c.1991+2T>C | XP_011526276.1:n.1991+2T>C | |
| XM_011527975.1:c.2090+2T>C | XP_011526277.1:n.2090+2T>C | |
| XM_006722741.3:c.2092T>C | XP_006722804.2:p.Cys698Arg | |
| XM_011527966.2:c.2123+2T>C | XP_011526268.1:n.2123+2T>C | |
| XM_011527967.2:c.2111+2T>C | XP_011526269.1:n.2111+2T>C | |
| XM_011527968.3:c.2102+2T>C | XP_011526270.1:n.2102+2T>C | |
| XM_011527969.2:c.2090+2T>C | XP_011526271.1:n.2090+2T>C | |
| XM_011527970.2:c.2125T>C | XP_011526272.1:p.Cys709Arg | |
| XM_011527971.3:c.2125T>C | XP_011526273.1:p.Cys709Arg | |
| XM_011527972.3:c.2123+2T>C | XP_011526274.1:n.2123+2T>C | |
| XM_011527973.2:c.2003+2T>C | XP_011526275.1:n.2003+2T>C | |
| XM_011527974.2:c.1991+2T>C | XP_011526276.1:n.1991+2T>C | |
| XM_011527975.2:c.2090+2T>C | XP_011526277.1:n.2090+2T>C | |
| XM_017026762.1:c.1388+2T>C | XP_016882251.1:n.1388+2T>C | |
| NM_001290023.2:c.1970+2T>C | NP_001276952.1:n.1970+2T>C | |
| NM_005535.3:c.1972T>C MANE Select | NP_005526.1:p.Cys658Arg |