Linked Data
ClinVar Variation Id:
224956
ClinVar RCV Id:
RCV000210520
RCV000437200
RCV001157834
RCV001579483
RCV003316168
RCV004541303
RCV000562445
RCV001152356
RCV001152357
dbSNP Id:
rs34779890
ExAC:
5:236695 C / T
gnomAD v2:
5-236695-C-T
gnomAD v3:
5-236580-C-T
gnomAD v4:
5-236580-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.236580C>T , CM000667.2:g.236580C>T | GRCh38 |
| NC_000005.9:g.236695C>T , CM000667.1:g.236695C>T | GRCh37 |
| NC_000005.8:g.289695C>T | NCBI36 |
| NG_012339.1:g.23340C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.1413C>T MANE Select | ENSP00000264932.6:p.Ile471= | |
| ENST00000651543.1:c.*146C>T | ENSP00000499215.1:n.*146C>T | |
| ENST00000264932.10:c.1413C>T | ENSP00000264932.6:p.Ile471= | |
| ENST00000504309.5:c.1413C>T | ENSP00000426514.1:p.Ile471= | |
| ENST00000505555.5:n.1453C>T | ||
| ENST00000510361.5:c.1269C>T | ENSP00000427703.1:p.Ile423= | |
| ENST00000511810.5:n.2160C>T | ||
| ENST00000514027.5:n.1368C>T | ||
| ENST00000515752.5:n.999C>T | ||
| ENST00000515815.5:c.68C>T | ||
| ENST00000617470.4:c.978C>T | ENSP00000484230.1:p.Ile326= | |
| NM_001294332.1:c.1269C>T | NP_001281261.1:p.Ile423= | |
| NM_004168.3:c.1413C>T | NP_004159.2:p.Ile471= | |
| XM_005248331.2:c.1413C>T | XP_005248388.1:p.Ile471= | |
| XM_011514072.1:c.1413C>T | XP_011512374.1:p.Ile471= | |
| XM_011514073.1:c.1413C>T | XP_011512375.1:p.Ile471= | |
| XR_925638.1:n.1546C>T | ||
| NM_001330758.1:c.1413C>T | NP_001317687.1:p.Ile471= | |
| XM_011514072.2:c.1413C>T | XP_011512374.1:p.Ile471= | |
| XM_011514073.2:c.1413C>T | XP_011512375.1:p.Ile471= | |
| XM_017009685.2:c.1413C>T | XP_016865174.1:p.Ile471= | |
| XM_024446143.1:c.1269C>T | XP_024301911.1:p.Ile423= | |
| XR_002956167.1:n.1460C>T | ||
| NM_004168.4:c.1413C>T MANE Select | NP_004159.2:p.Ile471= | |
| NM_001294332.2:c.1269C>T | NP_001281261.1:p.Ile423= | |
| NM_001330758.2:c.1413C>T | NP_001317687.1:p.Ile471= |