Linked Data
dbSNP Id:
rs763884856
ExAC:
2:234527138 C / G
gnomAD v2:
2-234527138-C-G
gnomAD v4:
2-233618492-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233618492C>G , CM000664.2:g.233618492C>G | GRCh38 |
| NC_000002.11:g.234527138C>G , CM000664.1:g.234527138C>G | GRCh37 |
| NC_000002.10:g.234191877C>G | NCBI36 |
| NG_002601.2:g.33749C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373450.5:c.785C>G MANE Select | ENSP00000362549.4:p.Pro262Arg | |
| ENST00000373450.4:c.785C>G | ENSP00000362549.4:p.Pro262Arg | |
| NM_019076.4:c.785C>G | NP_061949.3:p.Pro262Arg | |
| NM_019076.5:c.785C>G MANE Select | NP_061949.3:p.Pro262Arg |