Linked Data
ClinVar Variation Id:
412899
dbSNP Id:
rs149790711
ExAC:
2:189873898 C / T
gnomAD v2:
2-189873898-C-T
gnomAD v3:
2-189009172-C-T
gnomAD v4:
2-189009172-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189009172C>T , CM000664.2:g.189009172C>T | GRCh38 |
| NC_000002.11:g.189873898C>T , CM000664.1:g.189873898C>T | GRCh37 |
| NC_000002.10:g.189582143C>T | NCBI36 |
| NG_007404.1:g.39800C>T , LRG_3:g.39800C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3675C>T | ENSP00000415346.2:p.Pro1225= | |
| ENST00000304636.9:c.3774C>T MANE Select | ENSP00000304408.4:p.Pro1258= | |
| ENST00000304636.7:c.3774C>T | ENSP00000304408.3:p.Pro1258= | |
| ENST00000317840.9:c.2865C>T | ENSP00000315243.6:p.Pro955= | |
| ENST00000487010.1:n.871C>T | ||
| NM_000090.3:c.3774C>T , LRG_3t1:c.3774C>T | NP_000081.1:p.Pro1258= | |
| NM_000090.4:c.3774C>T MANE Select | NP_000081.2:p.Pro1258= |