Linked Data
dbSNP Id:
rs781983320
ExAC:
1:149897764 G / A
gnomAD v2:
1-149897764-G-A
gnomAD v4:
1-149925872-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149925872G>A , CM000663.2:g.149925872G>A | GRCh38 |
| NC_000001.10:g.149897764G>A , CM000663.1:g.149897764G>A | GRCh37 |
| NC_000001.9:g.148164388G>A | NCBI36 |
| NG_032777.1:g.7381C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.9:c.877C>T MANE Select | ENSP00000271628.8:p.Pro293Ser | |
| ENST00000271628.8:c.877C>T | ENSP00000271628.8:p.Pro293Ser | |
| NM_005850.4:c.877C>T | NP_005841.1:p.Pro293Ser | |
| NM_005850.5:c.877C>T MANE Select | NP_005841.1:p.Pro293Ser |