Linked Data
ClinVar Variation Id:
198033
dbSNP Id:
rs201131924
ExAC:
17:48246548 C / G
gnomAD v2:
17-48246548-C-G
gnomAD v3:
17-50169187-C-G
gnomAD v4:
17-50169187-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50169187C>G , CM000679.2:g.50169187C>G | GRCh38 |
| NC_000017.10:g.48246548C>G , CM000679.1:g.48246548C>G | GRCh37 |
| NC_000017.9:g.45601547C>G | NCBI36 |
| NG_008889.1:g.8183C>G , LRG_203:g.8183C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.597+83C>G | ENSP00000422030.2:n.597+83C>G | |
| ENST00000511303.6:n.309+615C>G | ||
| ENST00000512526.2:c.575+615C>G | ENSP00000426606.2:n.575+615C>G | |
| ENST00000682109.1:c.560C>G | ENSP00000508041.1:p.Pro187Arg | |
| ENST00000683226.1:n.390C>G | ||
| ENST00000683294.1:c.680C>G | ENSP00000508134.1:p.Pro227Arg | |
| ENST00000262018.8:c.680C>G MANE Select | ENSP00000262018.3:p.Pro227Arg | |
| ENST00000262018.7:c.680C>G | ENSP00000262018.3:p.Pro227Arg | |
| ENST00000344627.10:c.584+615C>G | ENSP00000345522.6:n.584+615C>G | |
| ENST00000502555.5:c.*339C>G | ENSP00000422817.1:n.*339C>G | |
| ENST00000504073.1:c.64+83C>G | ||
| ENST00000511303.5:c.305+615C>G | ENSP00000426104.1:n.305+615C>G | |
| ENST00000512526.1:c.419+615C>G | ||
| ENST00000513821.5:c.680C>G | ENSP00000426571.1:p.Pro227Arg | |
| ENST00000513942.5:n.375+615C>G | ||
| NM_000023.2:c.680C>G , LRG_203t1:c.680C>G | NP_000014.1:p.Pro227Arg | |
| NM_001135697.1:c.584+615C>G | NP_001129169.1:n.584+615C>G | |
| XM_011525120.1:c.680C>G | XP_011523422.1:p.Pro227Arg | |
| XM_011525121.1:c.597+83C>G | XP_011523423.1:n.597+83C>G | |
| XM_011525122.1:c.680C>G | XP_011523424.1:p.Pro227Arg | |
| XM_011525123.1:c.584+615C>G | XP_011523425.1:n.584+615C>G | |
| XM_011525124.1:c.374C>G | XP_011523426.1:p.Pro125Arg | |
| XR_934517.1:n.746C>G | ||
| NM_000023.3:c.680C>G | NP_000014.1:p.Pro227Arg | |
| NM_001135697.2:c.584+615C>G | NP_001129169.1:n.584+615C>G | |
| NR_135553.1:n.736C>G | ||
| XM_011525120.2:c.842C>G | XP_011523422.2:p.Pro281Arg | |
| XM_011525121.2:c.759+83C>G | XP_011523423.2:n.759+83C>G | |
| XM_011525122.2:c.842C>G | XP_011523424.2:p.Pro281Arg | |
| XM_011525123.2:c.746+615C>G | XP_011523425.2:n.746+615C>G | |
| XM_011525124.2:c.374C>G | XP_011523426.1:p.Pro125Arg | |
| XM_024450873.1:c.374C>G | XP_024306641.1:p.Pro125Arg | |
| XR_002958056.1:n.1198C>G | ||
| NM_000023.4:c.680C>G MANE Select | NP_000014.1:p.Pro227Arg | |
| NM_001135697.3:c.584+615C>G | NP_001129169.1:n.584+615C>G | |
| NR_135553.2:n.716C>G |