Linked Data
ClinVar Variation Id:
999068
ClinVar RCV Id:
RCV001295017
dbSNP Id:
rs774168858
ExAC:
19:18180463 C / T
gnomAD v2:
19-18180463-C-T
gnomAD v3:
19-18069653-C-T
gnomAD v4:
19-18069653-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18069653C>T , CM000681.2:g.18069653C>T | GRCh38 |
| NC_000019.9:g.18180463C>T , CM000681.1:g.18180463C>T | GRCh37 |
| NC_000019.8:g.18041463C>T | NCBI36 |
| NG_007366.2:g.34297G>A , LRG_72:g.34297G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593993.7:c.1082G>A MANE Select | ENSP00000472165.2:p.Arg361Gln | |
| ENST00000593993.6:c.1082G>A | ENSP00000472165.2:p.Arg361Gln | |
| ENST00000600835.6:c.1082G>A | ENSP00000470788.1:p.Arg361Gln | |
| NM_001290023.1:c.1082G>A | NP_001276952.1:p.Arg361Gln | |
| NM_001290024.1:c.1202G>A | NP_001276953.1:p.Arg401Gln | |
| NM_005535.2:c.1082G>A | NP_005526.1:p.Arg361Gln | |
| XM_006722741.2:c.1202G>A | XP_006722804.2:p.Arg401Gln | |
| XM_011527966.1:c.1235G>A | XP_011526268.1:p.Arg412Gln | |
| XM_011527967.1:c.1223G>A | XP_011526269.1:p.Arg408Gln | |
| XM_011527968.1:c.1214G>A | XP_011526270.1:p.Arg405Gln | |
| XM_011527969.1:c.1202G>A | XP_011526271.1:p.Arg401Gln | |
| XM_011527970.1:c.1235G>A | XP_011526272.1:p.Arg412Gln | |
| XM_011527971.1:c.1235G>A | XP_011526273.1:p.Arg412Gln | |
| XM_011527972.1:c.1235G>A | XP_011526274.1:p.Arg412Gln | |
| XM_011527973.1:c.1115G>A | XP_011526275.1:p.Arg372Gln | |
| XM_011527974.1:c.1103G>A | XP_011526276.1:p.Arg368Gln | |
| XM_011527975.1:c.1202G>A | XP_011526277.1:p.Arg401Gln | |
| XM_011527976.1:c.1235G>A | XP_011526278.1:p.Arg412Gln | |
| XM_006722741.3:c.1202G>A | XP_006722804.2:p.Arg401Gln | |
| XM_011527966.2:c.1235G>A | XP_011526268.1:p.Arg412Gln | |
| XM_011527967.2:c.1223G>A | XP_011526269.1:p.Arg408Gln | |
| XM_011527968.3:c.1214G>A | XP_011526270.1:p.Arg405Gln | |
| XM_011527969.2:c.1202G>A | XP_011526271.1:p.Arg401Gln | |
| XM_011527970.2:c.1235G>A | XP_011526272.1:p.Arg412Gln | |
| XM_011527971.3:c.1235G>A | XP_011526273.1:p.Arg412Gln | |
| XM_011527972.3:c.1235G>A | XP_011526274.1:p.Arg412Gln | |
| XM_011527973.2:c.1115G>A | XP_011526275.1:p.Arg372Gln | |
| XM_011527974.2:c.1103G>A | XP_011526276.1:p.Arg368Gln | |
| XM_011527975.2:c.1202G>A | XP_011526277.1:p.Arg401Gln | |
| XM_011527976.2:c.1235G>A | XP_011526278.1:p.Arg412Gln | |
| XM_017026762.1:c.500G>A | XP_016882251.1:p.Arg167Gln | |
| NM_001290023.2:c.1082G>A | NP_001276952.1:p.Arg361Gln | |
| NM_005535.3:c.1082G>A MANE Select | NP_005526.1:p.Arg361Gln |