Linked Data
ClinVar Variation Id:
222817
ClinVar RCV Id:
RCV000208222
RCV000228322
RCV000283732
RCV000342145
RCV000396726
RCV000570331
RCV000411374
RCV002510820
RCV003474989
dbSNP Id:
rs367721665
ExAC:
5:231050 C / T
gnomAD v2:
5-231050-C-T
gnomAD v3:
5-230935-C-T
gnomAD v4:
5-230935-C-T
PubMed:
PMID:25394176
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.230935C>T , CM000667.2:g.230935C>T | GRCh38 |
| NC_000005.9:g.231050C>T , CM000667.1:g.231050C>T | GRCh37 |
| NC_000005.8:g.284050C>T | NCBI36 |
| NG_012339.1:g.17695C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.830C>T MANE Select | ENSP00000264932.6:p.Thr277Met | |
| ENST00000651543.1:c.830C>T | ENSP00000499215.1:p.Thr277Met | |
| ENST00000264932.10:c.830C>T | ENSP00000264932.6:p.Thr277Met | |
| ENST00000504309.5:c.830C>T | ENSP00000426514.1:p.Thr277Met | |
| ENST00000504824.5:n.815C>T | ||
| ENST00000505555.5:n.870C>T | ||
| ENST00000510361.5:c.686C>T | ENSP00000427703.1:p.Thr229Met | |
| ENST00000514027.5:n.785C>T | ||
| ENST00000514233.1:n.340C>T | ||
| ENST00000617470.4:c.395C>T | ENSP00000484230.1:p.Thr132Met | |
| NM_001294332.1:c.686C>T | NP_001281261.1:p.Thr229Met | |
| NM_004168.3:c.830C>T | NP_004159.2:p.Thr277Met | |
| XM_005248331.2:c.830C>T | XP_005248388.1:p.Thr277Met | |
| XM_011514072.1:c.830C>T | XP_011512374.1:p.Thr277Met | |
| XM_011514073.1:c.830C>T | XP_011512375.1:p.Thr277Met | |
| XR_925638.1:n.963C>T | ||
| NM_001330758.1:c.830C>T | NP_001317687.1:p.Thr277Met | |
| XM_011514072.2:c.830C>T | XP_011512374.1:p.Thr277Met | |
| XM_011514073.2:c.830C>T | XP_011512375.1:p.Thr277Met | |
| XM_017009685.2:c.830C>T | XP_016865174.1:p.Thr277Met | |
| XM_024446143.1:c.686C>T | XP_024301911.1:p.Thr229Met | |
| XR_002956167.1:n.877C>T | ||
| NM_004168.4:c.830C>T MANE Select | NP_004159.2:p.Thr277Met | |
| NM_001294332.2:c.686C>T | NP_001281261.1:p.Thr229Met | |
| NM_001330758.2:c.830C>T | NP_001317687.1:p.Thr277Met |