Linked Data
ClinVar Variation Id:
260679
dbSNP Id:
rs185980830
ExAC:
2:63540407 G / A
gnomAD v2:
2-63540407-G-A
gnomAD v3:
2-63313272-G-A
gnomAD v4:
2-63313272-G-A
COSMIC:
COSM4019686
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.63313272G>A , CM000664.2:g.63313272G>A | GRCh38 |
| NC_000002.11:g.63540407G>A , CM000664.1:g.63540407G>A | GRCh37 |
| NC_000002.10:g.63393911G>A | NCBI36 |
| NG_028144.1:g.280461C>T | |
| NG_028144.2:g.532554C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272321.12:c.1788C>T MANE Select | ENSP00000272321.7:p.Asp596= | |
| ENST00000272321.11:c.1788C>T | ENSP00000272321.7:p.Asp596= | |
| ENST00000398544.7:c.1311C>T | ENSP00000381552.3:p.Asp437= | |
| ENST00000409120.5:c.1212C>T | ENSP00000386769.1:p.Asp404= | |
| ENST00000409199.5:c.1212C>T | ENSP00000386592.1:p.Asp404= | |
| ENST00000409354.6:c.1149C>T | ENSP00000386795.2:p.Asp383= | |
| ENST00000409562.7:c.1788C>T | ENSP00000387222.3:p.Asp596= | |
| NM_001042692.2:c.1311C>T | NP_001036157.1:p.Asp437= | |
| NM_015910.5:c.1788C>T | NP_056994.3:p.Asp596= | |
| NR_122106.1:n.1435C>T | ||
| XM_005264348.2:c.1788C>T | XP_005264405.1:p.Asp596= | |
| XM_011532881.1:c.1716C>T | XP_011531183.1:p.Asp572= | |
| XM_011532882.1:c.1689C>T | XP_011531184.1:p.Asp563= | |
| XM_011532883.1:c.1788C>T | XP_011531185.1:p.Asp596= | |
| XM_011532884.1:c.1788C>T | XP_011531186.1:p.Asp596= | |
| XM_011532885.1:c.1788C>T | XP_011531187.1:p.Asp596= | |
| XM_011532887.1:c.1788C>T | XP_011531189.1:p.Asp596= | |
| XR_244934.1:n.2035C>T | ||
| XR_244935.1:n.2035C>T | ||
| XR_939686.1:n.2035C>T | ||
| NM_001042692.3:c.1311C>T | NP_001036157.1:p.Asp437= | |
| NM_001354044.1:c.1716C>T | NP_001340973.1:p.Asp572= | |
| NM_015910.6:c.1788C>T | NP_056994.3:p.Asp596= | |
| NR_122106.2:n.1435C>T | ||
| NR_148704.1:n.2568C>T | ||
| NR_148705.1:n.2316C>T | ||
| XM_005264348.4:c.1788C>T | XP_005264405.1:p.Asp596= | |
| XM_011532881.3:c.1716C>T | XP_011531183.1:p.Asp572= | |
| XM_011532884.3:c.1788C>T | XP_011531186.1:p.Asp596= | |
| XM_011532887.3:c.1788C>T | XP_011531189.1:p.Asp596= | |
| XM_017004253.2:c.1788C>T | XP_016859742.1:p.Asp596= | |
| XM_017004254.2:c.1788C>T | XP_016859743.1:p.Asp596= | |
| XR_001738759.2:n.2250C>T | ||
| XR_001738760.2:n.2245C>T | ||
| XR_002959303.1:n.2250C>T | ||
| XR_244934.3:n.2250C>T | ||
| NM_015910.7:c.1788C>T MANE Select | NP_056994.3:p.Asp596= | |
| NM_001354044.2:c.1716C>T | NP_001340973.1:p.Asp572= | |
| NR_148704.2:n.2246C>T | ||
| NR_148705.2:n.1994C>T |