Linked Data
ClinVar Variation Id:
353203
ClinVar RCV Id:
RCV000275715
RCV000334152
RCV000381733
RCV000457962
RCV000562470
RCV001529253
RCV001821078
dbSNP Id:
rs146653693
ExAC:
5:228401 C / T
gnomAD v2:
5-228401-C-T
gnomAD v3:
5-228286-C-T
gnomAD v4:
5-228286-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.228286C>T , CM000667.2:g.228286C>T | GRCh38 |
| NC_000005.9:g.228401C>T , CM000667.1:g.228401C>T | GRCh37 |
| NC_000005.8:g.281401C>T | NCBI36 |
| NG_012339.1:g.15046C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.723C>T MANE Select | ENSP00000264932.6:p.Asp241= | |
| ENST00000651543.1:c.723C>T | ENSP00000499215.1:p.Asp241= | |
| ENST00000264932.10:c.723C>T | ENSP00000264932.6:p.Asp241= | |
| ENST00000504309.5:c.723C>T | ENSP00000426514.1:p.Asp241= | |
| ENST00000504824.5:n.708C>T | ||
| ENST00000505555.5:n.763C>T | ||
| ENST00000509420.5:n.517C>T | ||
| ENST00000510361.5:c.579C>T | ENSP00000427703.1:p.Asp193= | |
| ENST00000514027.5:n.678C>T | ||
| ENST00000514233.1:n.233C>T | ||
| ENST00000617470.4:c.381-2635C>T | ENSP00000484230.1:n.381-2635C>T | |
| NM_001294332.1:c.579C>T | NP_001281261.1:p.Asp193= | |
| NM_004168.3:c.723C>T | NP_004159.2:p.Asp241= | |
| XM_005248331.2:c.723C>T | XP_005248388.1:p.Asp241= | |
| XM_011514072.1:c.723C>T | XP_011512374.1:p.Asp241= | |
| XM_011514073.1:c.723C>T | XP_011512375.1:p.Asp241= | |
| XR_925638.1:n.856C>T | ||
| NM_001330758.1:c.723C>T | NP_001317687.1:p.Asp241= | |
| XM_011514072.2:c.723C>T | XP_011512374.1:p.Asp241= | |
| XM_011514073.2:c.723C>T | XP_011512375.1:p.Asp241= | |
| XM_017009685.2:c.723C>T | XP_016865174.1:p.Asp241= | |
| XM_024446143.1:c.579C>T | XP_024301911.1:p.Asp193= | |
| XR_002956167.1:n.770C>T | ||
| NM_004168.4:c.723C>T MANE Select | NP_004159.2:p.Asp241= | |
| NM_001294332.2:c.579C>T | NP_001281261.1:p.Asp193= | |
| NM_001330758.2:c.723C>T | NP_001317687.1:p.Asp241= |