Linked Data
dbSNP Id:
rs752431486
ExAC:
2:84652711 G / A
gnomAD v2:
2-84652711-G-A
gnomAD v4:
2-84425587-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84425587G>A , CM000664.2:g.84425587G>A | GRCh38 |
| NC_000002.11:g.84652711G>A , CM000664.1:g.84652711G>A | GRCh37 |
| NC_000002.10:g.84506222G>A | NCBI36 |
| NG_016755.1:g.38876C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.842C>T MANE Select | ENSP00000377446.2:p.Pro281Leu | |
| ENST00000651342.1:c.*282C>T | ENSP00000498471.1:n.*282C>T | |
| ENST00000393868.6:c.842C>T | ENSP00000377446.2:p.Pro281Leu | |
| ENST00000484365.1:n.1350C>T | ||
| ENST00000487809.1:n.589C>T | ||
| ENST00000491123.5:n.688C>T | ||
| NM_003849.3:c.842C>T | NP_003840.2:p.Pro281Leu | |
| NM_003849.4:c.842C>T MANE Select | NP_003840.2:p.Pro281Leu |