Linked Data
ClinVar Variation Id:
183275
dbSNP Id:
rs730882196
ExAC:
5:150639398 C / T
gnomAD v2:
5-150639398-C-T
gnomAD v4:
5-151259837-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151259837C>T , CM000667.2:g.151259837C>T | GRCh38 |
| NC_000005.9:g.150639398C>T , CM000667.1:g.150639398C>T | GRCh37 |
| NC_000005.8:g.150619591C>T | NCBI36 |
| NG_009059.1:g.11786C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357164.4:c.164C>T MANE Select | ENSP00000349687.3:p.Pro55Leu | |
| ENST00000357164.3:c.164C>T | ENSP00000349687.3:p.Pro55Leu | |
| ENST00000523004.1:c.39C>T | ||
| ENST00000523466.5:c.209C>T | ENSP00000429100.1:p.Pro70Leu | |
| NM_000405.4:c.164C>T | NP_000396.2:p.Pro55Leu | |
| NM_001167607.1:c.164C>T | NP_001161079.1:p.Pro55Leu | |
| NM_000405.5:c.164C>T MANE Select | NP_000396.2:p.Pro55Leu | |
| NM_001167607.2:c.164C>T | NP_001161079.1:p.Pro55Leu | |
| NM_001167607.3:c.164C>T | NP_001161079.1:p.Pro55Leu |