Linked Data
ClinVar Variation Id:
242753
ClinVar RCV Id:
RCV000471188
dbSNP Id:
rs147508369
ExAC:
19:42365273 C / T
gnomAD v2:
19-42365273-C-T
gnomAD v3:
19-41861204-C-T
gnomAD v4:
19-41861204-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41861204C>T , CM000681.2:g.41861204C>T | GRCh38 |
| NC_000019.9:g.42365273C>T , CM000681.1:g.42365273C>T | GRCh37 |
| NC_000019.8:g.47057113C>T | NCBI36 |
| NG_007080.2:g.6286C>T | |
| NG_007080.3:g.6287C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000598261.2:c.164C>T | ENSP00000469798.1:p.Thr55Met | |
| ENST00000598742.6:c.164C>T MANE Select | ENSP00000470972.1:p.Thr55Met | |
| ENST00000600467.6:c.164C>T | ENSP00000469228.2:p.Thr55Met | |
| ENST00000221975.6:c.-59C>T | ENSP00000221975.2:n.-59C>T | |
| ENST00000593863.5:c.164C>T | ENSP00000470004.1:p.Thr55Met | |
| ENST00000598261.1:c.164C>T | ENSP00000469798.1:p.Thr55Met | |
| ENST00000598399.1:c.161C>T | ENSP00000472660.1:p.Thr54Met | |
| ENST00000598466.5:n.199C>T | ||
| ENST00000598742.5:c.164C>T | ENSP00000470972.1:p.Thr55Met | |
| ENST00000600467.5:c.164C>T | ENSP00000469228.1:p.Thr55Met | |
| ENST00000601492.5:c.164C>T | ENSP00000471621.1:p.Thr55Met | |
| NM_001022.3:c.164C>T | NP_001013.1:p.Thr55Met | |
| NM_001321483.1:c.164C>T | NP_001308412.1:p.Thr55Met | |
| NM_001321484.1:c.164C>T | NP_001308413.1:p.Thr55Met | |
| NM_001321485.1:c.164C>T | NP_001308414.1:p.Thr55Met | |
| XM_017027113.2:c.164C>T | XP_016882602.1:p.Thr55Met | |
| NM_001022.4:c.164C>T MANE Select | NP_001013.1:p.Thr55Met | |
| NM_001321483.2:c.164C>T | NP_001308412.1:p.Thr55Met | |
| NM_001321484.2:c.164C>T | NP_001308413.1:p.Thr55Met | |
| NM_001321485.2:c.164C>T | NP_001308414.1:p.Thr55Met |