Linked Data
ClinVar Variation Id:
2499044
ClinVar RCV Id:
RCV003223253
dbSNP Id:
rs1307527767
gnomAD v2:
7-73097351-G-A
gnomAD v3:
7-73683021-G-A
gnomAD v4:
7-73683021-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73683021G>A , CM000669.2:g.73683021G>A | GRCh38 |
| NC_000007.13:g.73097351G>A , CM000669.1:g.73097351G>A | GRCh37 |
| NC_000007.12:g.72735287G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395176.3:c.403C>T MANE Select | ENSP00000378605.1:p.Pro135Ser | |
| ENST00000395176.2:c.403C>T | ENSP00000378605.1:p.Pro135Ser | |
| NM_032317.2:c.403C>T | NP_115693.2:p.Pro135Ser | |
| NM_032317.3:c.403C>T MANE Select | NP_115693.2:p.Pro135Ser |