Linked Data
ClinVar Variation Id:
306626
ClinVar RCV Id:
RCV000327044
dbSNP Id:
rs752140106
ExAC:
12:100787203 C / T
gnomAD v2:
12-100787203-C-T
gnomAD v3:
12-100393425-C-T
gnomAD v4:
12-100393425-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.100393425C>T , CM000674.2:g.100393425C>T | GRCh38 |
| NC_000012.11:g.100787203C>T , CM000674.1:g.100787203C>T | GRCh37 |
| NC_000012.10:g.99311334C>T | NCBI36 |
| NG_021175.1:g.41347C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323346.10:c.530C>T MANE Select | ENSP00000316909.4:p.Ala177Val | |
| ENST00000323346.9:c.530C>T | ENSP00000316909.4:p.Ala177Val | |
| ENST00000392989.3:c.530C>T | ENSP00000376715.3:p.Ala177Val | |
| NM_001145288.1:c.530C>T | NP_001138760.1:p.Ala177Val | |
| NM_139319.2:c.530C>T | NP_647480.1:p.Ala177Val | |
| NM_001145288.2:c.530C>T | NP_001138760.1:p.Ala177Val | |
| NM_139319.3:c.530C>T MANE Select | NP_647480.1:p.Ala177Val |