Linked Data
ClinVar Variation Id:
522195
dbSNP Id:
rs544657165
ExAC:
2:63609217 C / T
gnomAD v2:
2-63609217-C-T
gnomAD v3:
2-63382082-C-T
gnomAD v4:
2-63382082-C-T
COSMIC:
COSM1198752
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.63382082C>T , CM000664.2:g.63382082C>T | GRCh38 |
| NC_000002.11:g.63609217C>T , CM000664.1:g.63609217C>T | GRCh37 |
| NC_000002.10:g.63462721C>T | NCBI36 |
| NG_028144.1:g.211651G>A | |
| NG_028144.2:g.463744G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272321.12:c.1448G>A MANE Select | ENSP00000272321.7:p.Arg483Gln | |
| ENST00000272321.11:c.1448G>A | ENSP00000272321.7:p.Arg483Gln | |
| ENST00000398544.7:c.971G>A | ENSP00000381552.3:p.Arg324Gln | |
| ENST00000409120.5:c.872G>A | ENSP00000386769.1:p.Arg291Gln | |
| ENST00000409199.5:c.872G>A | ENSP00000386592.1:p.Arg291Gln | |
| ENST00000409354.6:c.809G>A | ENSP00000386795.2:p.Arg270Gln | |
| ENST00000409562.7:c.1448G>A | ENSP00000387222.3:p.Arg483Gln | |
| ENST00000409835.5:n.1695G>A | ||
| ENST00000417238.5:c.*1559G>A | ENSP00000411429.1:n.*1559G>A | |
| NM_001042692.2:c.971G>A | NP_001036157.1:p.Arg324Gln | |
| NM_015910.5:c.1448G>A | NP_056994.3:p.Arg483Gln | |
| NR_122106.1:n.1095G>A | ||
| XM_005264348.2:c.1448G>A | XP_005264405.1:p.Arg483Gln | |
| XM_011532881.1:c.1376G>A | XP_011531183.1:p.Arg459Gln | |
| XM_011532882.1:c.1349G>A | XP_011531184.1:p.Arg450Gln | |
| XM_011532883.1:c.1448G>A | XP_011531185.1:p.Arg483Gln | |
| XM_011532884.1:c.1448G>A | XP_011531186.1:p.Arg483Gln | |
| XM_011532885.1:c.1448G>A | XP_011531187.1:p.Arg483Gln | |
| XM_011532886.1:c.1448G>A | XP_011531188.1:p.Arg483Gln | |
| XM_011532887.1:c.1448G>A | XP_011531189.1:p.Arg483Gln | |
| XM_011532888.1:c.1448G>A | XP_011531190.1:p.Arg483Gln | |
| XM_011532889.1:c.1448G>A | XP_011531191.1:p.Arg483Gln | |
| XM_011532890.1:c.1448G>A | XP_011531192.1:p.Arg483Gln | |
| XM_011532891.1:c.1376G>A | XP_011531193.1:p.Arg459Gln | |
| XR_244934.1:n.1695G>A | ||
| XR_244935.1:n.1695G>A | ||
| XR_939686.1:n.1695G>A | ||
| NM_001042692.3:c.971G>A | NP_001036157.1:p.Arg324Gln | |
| NM_001354044.1:c.1376G>A | NP_001340973.1:p.Arg459Gln | |
| NM_001354045.1:c.1448G>A | NP_001340974.1:p.Arg483Gln | |
| NM_015910.6:c.1448G>A | NP_056994.3:p.Arg483Gln | |
| NR_122106.2:n.1095G>A | ||
| NR_148704.1:n.2228G>A | ||
| NR_148705.1:n.1976G>A | ||
| XM_005264348.4:c.1448G>A | XP_005264405.1:p.Arg483Gln | |
| XM_011532881.3:c.1376G>A | XP_011531183.1:p.Arg459Gln | |
| XM_011532884.3:c.1448G>A | XP_011531186.1:p.Arg483Gln | |
| XM_011532887.3:c.1448G>A | XP_011531189.1:p.Arg483Gln | |
| XM_011532890.3:c.1448G>A | XP_011531192.1:p.Arg483Gln | |
| XM_011532891.2:c.1376G>A | XP_011531193.1:p.Arg459Gln | |
| XM_017004253.2:c.1448G>A | XP_016859742.1:p.Arg483Gln | |
| XM_017004254.2:c.1448G>A | XP_016859743.1:p.Arg483Gln | |
| XR_001738759.2:n.1910G>A | ||
| XR_001738760.2:n.1910G>A | ||
| XR_002959303.1:n.1910G>A | ||
| XR_244934.3:n.1910G>A | ||
| NM_015910.7:c.1448G>A MANE Select | NP_056994.3:p.Arg483Gln | |
| NM_001354044.2:c.1376G>A | NP_001340973.1:p.Arg459Gln | |
| NM_001354045.2:c.1448G>A | NP_001340974.1:p.Arg483Gln | |
| NR_148704.2:n.1906G>A | ||
| NR_148705.2:n.1654G>A |