Linked Data
ClinVar Variation Id:
361901
ClinVar RCV Id:
RCV000349818
dbSNP Id:
rs776429452
gnomAD v2:
8-133595989-T-C
gnomAD v3:
8-132583742-T-C
gnomAD v4:
8-132583742-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132583742T>C , CM000670.2:g.132583742T>C | GRCh38 |
| NC_000008.10:g.133595989T>C , CM000670.1:g.133595989T>C | GRCh37 |
| NC_000008.9:g.133665171T>C | NCBI36 |
| NG_033068.1:g.96875A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620350.5:c.1178A>G MANE Select | ENSP00000484634.1:p.Lys393Arg | |
| ENST00000250173.5:c.1169A>G | ENSP00000250173.2:p.Lys390Arg | |
| ENST00000518642.5:c.1169A>G | ENSP00000428610.1:p.Lys390Arg | |
| ENST00000519595.5:c.1178A>G | ENSP00000429791.1:p.Lys393Arg | |
| ENST00000522597.1:n.447A>G | ||
| ENST00000522789.5:c.398A>G | ENSP00000428015.1:p.Lys133Arg | |
| ENST00000618342.1:c.1178A>G | ENSP00000484802.1:p.Lys393Arg | |
| ENST00000620350.4:c.1178A>G | ENSP00000484634.1:p.Lys393Arg | |
| NM_012472.4:c.1178A>G | NP_036604.2:p.Lys393Arg | |
| NR_073525.1:n.1293A>G | ||
| XM_006716538.2:c.1196A>G | XP_006716601.2:p.Lys399Arg | |
| XM_011516950.1:c.1136A>G | XP_011515252.1:p.Lys379Arg | |
| XM_011516952.1:c.932A>G | XP_011515254.1:p.Lys311Arg | |
| XM_011516953.1:c.818A>G | XP_011515255.1:p.Lys273Arg | |
| XM_011516954.1:c.818A>G | XP_011515256.1:p.Lys273Arg | |
| XR_428377.2:n.1321A>G | ||
| NM_001321961.1:c.1118A>G | NP_001308890.1:p.Lys373Arg | |
| NM_001321962.1:c.932A>G | NP_001308891.1:p.Lys311Arg | |
| NM_001321963.1:c.818A>G | NP_001308892.1:p.Lys273Arg | |
| NM_001321964.1:c.818A>G | NP_001308893.1:p.Lys273Arg | |
| NM_001321965.1:c.818A>G | NP_001308894.1:p.Lys273Arg | |
| NM_001321966.1:c.758A>G | NP_001308895.1:p.Lys253Arg | |
| NM_012472.5:c.1178A>G | NP_036604.2:p.Lys393Arg | |
| NR_073525.2:n.1293A>G | ||
| NR_135905.1:n.1391A>G | ||
| NR_135906.1:n.832A>G | ||
| NR_135907.1:n.1078A>G | ||
| NR_135908.1:n.772A>G | ||
| NR_135909.1:n.1196A>G | ||
| NR_135910.1:n.1503A>G | ||
| NR_135911.1:n.1582A>G | ||
| NR_135912.1:n.2141A>G | ||
| NR_135913.1:n.1828A>G | ||
| XM_006716538.3:c.1196A>G | XP_006716601.2:p.Lys399Arg | |
| XM_011516950.2:c.1136A>G | XP_011515252.1:p.Lys379Arg | |
| XM_017013296.1:c.1076A>G | XP_016868785.1:p.Lys359Arg | |
| XM_017013297.1:c.818A>G | XP_016868786.1:p.Lys273Arg | |
| XM_017013298.1:c.818A>G | XP_016868787.1:p.Lys273Arg | |
| NM_012472.6:c.1178A>G MANE Select | NP_036604.2:p.Lys393Arg | |
| NM_001321961.2:c.1118A>G | NP_001308890.1:p.Lys373Arg | |
| NM_001321962.2:c.932A>G | NP_001308891.1:p.Lys311Arg | |
| NM_001321963.2:c.818A>G | NP_001308892.1:p.Lys273Arg | |
| NM_001321964.2:c.818A>G | NP_001308893.1:p.Lys273Arg | |
| NM_001321965.2:c.818A>G | NP_001308894.1:p.Lys273Arg | |
| NM_001321966.2:c.758A>G | NP_001308895.1:p.Lys253Arg | |
| NR_073525.3:n.1221A>G | ||
| NR_135905.2:n.1319A>G | ||
| NR_135906.2:n.760A>G | ||
| NR_135907.2:n.1006A>G | ||
| NR_135908.2:n.700A>G | ||
| NR_135909.2:n.1216A>G | ||
| NR_135910.2:n.1566A>G | ||
| NR_135911.2:n.1686A>G | ||
| NR_135912.2:n.2245A>G | ||
| NR_135913.2:n.1932A>G |