Linked Data
dbSNP Id:
rs756932231
ExAC:
7:17379226 C / G
gnomAD v2:
7-17379226-C-G
gnomAD v3:
7-17339602-C-G
gnomAD v4:
7-17339602-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17339602C>G , CM000669.2:g.17339602C>G | GRCh38 |
| NC_000007.13:g.17379226C>G , CM000669.1:g.17379226C>G | GRCh37 |
| NC_000007.12:g.17345751C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.1777C>G MANE Select | ENSP00000242057.4:p.Pro593Ala | |
| ENST00000637807.1:c.1747C>G | ENSP00000490530.1:p.Pro583Ala | |
| ENST00000642825.1:c.1732C>G | ENSP00000495987.1:p.Pro578Ala | |
| ENST00000242057.8:c.1777C>G | ENSP00000242057.4:p.Pro593Ala | |
| ENST00000463496.1:c.1777C>G | ENSP00000436466.1:p.Pro593Ala | |
| NM_001621.4:c.1777C>G | NP_001612.1:p.Pro593Ala | |
| NM_001621.5:c.1777C>G MANE Select | NP_001612.1:p.Pro593Ala |