Linked Data
ClinVar Variation Id:
1942661
ClinVar RCV Id:
RCV002653854
dbSNP Id:
rs768320684
ExAC:
17:4858744 C / G
gnomAD v2:
17-4858744-C-G
gnomAD v4:
17-4955449-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4955449C>G , CM000679.2:g.4955449C>G | GRCh38 |
| NC_000017.10:g.4858744C>G , CM000679.1:g.4858744C>G | GRCh37 |
| NC_000017.9:g.4799490C>G | NCBI36 |
| NG_012063.2:g.14359C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519602.6:c.710C>G MANE Select | ENSP00000430055.2:p.Pro237Arg | |
| ENST00000323997.10:c.710C>G | ENSP00000324105.6:p.Pro237Arg | |
| ENST00000518175.1:c.710C>G | ENSP00000431087.1:p.Pro237Arg | |
| ENST00000519584.5:c.581C>G | ENSP00000430636.1:p.Pro194Arg | |
| ENST00000519602.5:c.710C>G | ENSP00000430055.1:p.Pro237Arg | |
| ENST00000521659.5:c.*656C>G | ENSP00000430554.1:n.*656C>G | |
| NM_001193503.1:c.581C>G | NP_001180432.1:p.Pro194Arg | |
| NM_001976.4:c.710C>G | NP_001967.3:p.Pro237Arg | |
| NM_053013.3:c.710C>G | NP_443739.3:p.Pro237Arg | |
| XM_005256521.2:c.737C>G | XP_005256578.1:p.Pro246Arg | |
| XM_011523729.1:c.710C>G | XP_011522031.1:p.Pro237Arg | |
| XM_017024346.2:c.710C>G | XP_016879835.1:p.Pro237Arg | |
| NM_001193503.2:c.581C>G | NP_001180432.1:p.Pro194Arg | |
| NM_001374523.1:c.710C>G | NP_001361452.1:p.Pro237Arg | |
| NM_001374524.1:c.737C>G | NP_001361453.1:p.Pro246Arg | |
| NM_001976.5:c.710C>G | NP_001967.3:p.Pro237Arg | |
| NM_053013.4:c.710C>G MANE Select | NP_443739.3:p.Pro237Arg |