Linked Data
dbSNP Id:
rs1308391177
gnomAD v2:
10-26986741-C-G
gnomAD v3:
10-26697812-C-G
gnomAD v4:
10-26697812-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26697812C>G , CM000672.2:g.26697812C>G | GRCh38 |
| NC_000010.10:g.26986741C>G , CM000672.1:g.26986741C>G | GRCh37 |
| NC_000010.9:g.27026747C>G | NCBI36 |
| NG_008972.1:g.5147C>G | |
| NG_008972.2:g.5147C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376215.10:c.101C>G MANE Select | ENSP00000365388.5:p.Pro34Arg | |
| ENST00000376215.9:c.101C>G | ENSP00000365388.5:p.Pro34Arg | |
| NM_014317.3:c.101C>G | NP_055132.2:p.Pro34Arg | |
| XR_428636.2:n.389C>G | ||
| XR_930486.1:n.389C>G | ||
| NM_001321978.1:c.101C>G | NP_001308907.1:p.Pro34Arg | |
| NM_001321979.1:c.-493C>G | NP_001308908.1:n.-493C>G | |
| NM_014317.4:c.101C>G | NP_055132.2:p.Pro34Arg | |
| XM_024447922.1:c.101C>G | XP_024303690.1:p.Pro34Arg | |
| XR_428636.4:n.389C>G | ||
| NM_014317.5:c.101C>G MANE Select | NP_055132.2:p.Pro34Arg | |
| NM_001321978.2:c.101C>G | NP_001308907.1:p.Pro34Arg | |
| NM_001321979.2:c.-493C>G | NP_001308908.1:n.-493C>G |