Linked Data
ClinVar Variation Id:
252909
ClinVar RCV Id:
RCV000239367
RCV000291747
RCV000339713
RCV000394814
RCV000571465
RCV000418051
RCV001800618
RCV003316320
dbSNP Id:
rs61733344
ExAC:
5:226090 C / T
gnomAD v2:
5-226090-C-T
gnomAD v3:
5-225975-C-T
gnomAD v4:
5-225975-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.225975C>T , CM000667.2:g.225975C>T | GRCh38 |
| NC_000005.9:g.226090C>T , CM000667.1:g.226090C>T | GRCh37 |
| NC_000005.8:g.279090C>T | NCBI36 |
| NG_012339.1:g.12735C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.549C>T MANE Select | ENSP00000264932.6:p.Gly183= | |
| ENST00000651543.1:c.549C>T | ENSP00000499215.1:p.Gly183= | |
| ENST00000264932.10:c.549C>T | ENSP00000264932.6:p.Gly183= | |
| ENST00000504309.5:c.549C>T | ENSP00000426514.1:p.Gly183= | |
| ENST00000504824.5:n.534C>T | ||
| ENST00000505555.5:n.589C>T | ||
| ENST00000509420.5:n.343C>T | ||
| ENST00000510361.5:c.405C>T | ENSP00000427703.1:p.Gly135= | |
| ENST00000617470.4:c.380+489C>T | ENSP00000484230.1:n.380+489C>T | |
| NM_001294332.1:c.405C>T | NP_001281261.1:p.Gly135= | |
| NM_004168.3:c.549C>T | NP_004159.2:p.Gly183= | |
| XM_005248331.2:c.549C>T | XP_005248388.1:p.Gly183= | |
| XM_011514072.1:c.549C>T | XP_011512374.1:p.Gly183= | |
| XM_011514073.1:c.549C>T | XP_011512375.1:p.Gly183= | |
| XR_925638.1:n.682C>T | ||
| NM_001330758.1:c.549C>T | NP_001317687.1:p.Gly183= | |
| XM_011514072.2:c.549C>T | XP_011512374.1:p.Gly183= | |
| XM_011514073.2:c.549C>T | XP_011512375.1:p.Gly183= | |
| XM_017009685.2:c.549C>T | XP_016865174.1:p.Gly183= | |
| XM_024446143.1:c.405C>T | XP_024301911.1:p.Gly135= | |
| XR_002956167.1:n.596C>T | ||
| NM_004168.4:c.549C>T MANE Select | NP_004159.2:p.Gly183= | |
| NM_001294332.2:c.405C>T | NP_001281261.1:p.Gly135= | |
| NM_001330758.2:c.549C>T | NP_001317687.1:p.Gly183= |