Linked Data
ClinVar Variation Id:
333057
dbSNP Id:
rs373838193
ExAC:
2:189862102 C / T
gnomAD v2:
2-189862102-C-T
gnomAD v3:
2-188997376-C-T
gnomAD v4:
2-188997376-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188997376C>T , CM000664.2:g.188997376C>T | GRCh38 |
| NC_000002.11:g.189862102C>T , CM000664.1:g.189862102C>T | GRCh37 |
| NC_000002.10:g.189570347C>T | NCBI36 |
| NG_007404.1:g.28004C>T , LRG_3:g.28004C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1757C>T | ENSP00000415346.2:p.Pro586Leu | |
| ENST00000304636.9:c.1856C>T MANE Select | ENSP00000304408.4:p.Pro619Leu | |
| ENST00000304636.7:c.1856C>T | ENSP00000304408.3:p.Pro619Leu | |
| ENST00000317840.9:c.1856C>T | ENSP00000315243.6:p.Pro619Leu | |
| NM_000090.3:c.1856C>T , LRG_3t1:c.1856C>T | NP_000081.1:p.Pro619Leu | |
| NM_000090.4:c.1856C>T MANE Select | NP_000081.2:p.Pro619Leu |