Linked Data
dbSNP Id:
rs1202843628
gnomAD v2:
2-202490770-G-A
gnomAD v3:
2-201626047-G-A
gnomAD v4:
2-201626047-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201626047G>A , CM000664.2:g.201626047G>A | GRCh38 |
| NC_000002.11:g.202490770G>A , CM000664.1:g.202490770G>A | GRCh37 |
| NC_000002.10:g.202199015G>A | NCBI36 |
| NG_032049.1:g.22483C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471318.6:n.934C>T | ||
| ENST00000621467.5:c.1012C>T | ENSP00000480508.2:p.Pro338Ser | |
| ENST00000686475.1:n.1078C>T | ||
| ENST00000409883.7:c.1138C>T MANE Select | ENSP00000386264.2:p.Pro380Ser | |
| ENST00000286196.9:c.*702C>T | ENSP00000286196.5:n.*702C>T | |
| ENST00000409444.6:c.1114C>T | ENSP00000387203.2:p.Pro372Ser | |
| ENST00000409883.6:c.1138C>T | ENSP00000386264.2:p.Pro380Ser | |
| ENST00000471318.5:n.366C>T | ||
| ENST00000495329.1:n.277C>T | ||
| ENST00000621467.4:c.1114C>T | ENSP00000480508.1:p.Pro372Ser | |
| NM_001044385.2:c.1138C>T | NP_001037850.1:p.Pro380Ser | |
| NM_152388.3:c.1114C>T | NP_689601.2:p.Pro372Ser | |
| NM_001044385.3:c.1138C>T MANE Select | NP_001037850.1:p.Pro380Ser | |
| NM_152388.4:c.1114C>T | NP_689601.2:p.Pro372Ser |