Linked Data
ClinVar Variation Id:
100522
ClinVar RCV Id:
RCV000128494
dbSNP Id:
rs199469658
gnomAD v4:
2-224503653-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.224503653T>C , CM000664.2:g.224503653T>C | GRCh38 |
| NC_000002.11:g.225368370T>C , CM000664.1:g.225368370T>C | GRCh37 |
| NC_000002.10:g.225076614T>C | NCBI36 |
| NG_032169.1:g.86745A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264414.9:c.1376A>G MANE Select | ENSP00000264414.4:p.Lys459Arg | |
| ENST00000264414.8:c.1376A>G | ENSP00000264414.4:p.Lys459Arg | |
| ENST00000344951.8:c.1178A>G | ENSP00000343601.4:p.Lys393Arg | |
| ENST00000409096.5:c.1304A>G | ENSP00000387200.1:p.Lys435Arg | |
| ENST00000409777.5:c.1304A>G | ENSP00000386525.1:p.Lys435Arg | |
| ENST00000481135.1:n.672A>G | ||
| ENST00000617432.4:c.98A>G | ENSP00000477851.1:p.Lys33Arg | |
| NM_001257197.1:c.1178A>G | NP_001244126.1:p.Lys393Arg | |
| NM_001257198.1:c.1394A>G | NP_001244127.1:p.Lys465Arg | |
| NM_003590.4:c.1376A>G | NP_003581.1:p.Lys459Arg | |
| XM_006712800.2:c.1343A>G | XP_006712863.2:p.Lys448Arg | |
| XM_011511994.1:c.1229A>G | XP_011510296.1:p.Lys410Arg | |
| XM_011511995.1:c.1334A>G | XP_011510297.1:p.Lys445Arg | |
| XM_011511996.1:c.1184A>G | XP_011510298.1:p.Lys395Arg | |
| XM_011511997.1:c.1076A>G | XP_011510299.1:p.Lys359Arg | |
| XM_011511994.3:c.1229A>G | XP_011510296.1:p.Lys410Arg | |
| XM_011511996.2:c.1184A>G | XP_011510298.1:p.Lys395Arg | |
| NM_003590.5:c.1376A>G MANE Select | NP_003581.1:p.Lys459Arg | |
| NM_001257198.2:c.1394A>G | NP_001244127.1:p.Lys465Arg | |
| NM_001257197.2:c.1178A>G | NP_001244126.1:p.Lys393Arg |