Linked Data
ClinVar Variation Id:
260269
dbSNP Id:
rs77289466
ExAC:
8:133596005 C / T
gnomAD v2:
8-133596005-C-T
gnomAD v3:
8-132583758-C-T
gnomAD v4:
8-132583758-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132583758C>T , CM000670.2:g.132583758C>T | GRCh38 |
| NC_000008.10:g.133596005C>T , CM000670.1:g.133596005C>T | GRCh37 |
| NC_000008.9:g.133665187C>T | NCBI36 |
| NG_033068.1:g.96859G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620350.5:c.1162G>A MANE Select | ENSP00000484634.1:p.Gly388Ser | |
| ENST00000250173.5:c.1153G>A | ENSP00000250173.2:p.Gly385Ser | |
| ENST00000518642.5:c.1153G>A | ENSP00000428610.1:p.Gly385Ser | |
| ENST00000519595.5:c.1162G>A | ENSP00000429791.1:p.Gly388Ser | |
| ENST00000522597.1:n.431G>A | ||
| ENST00000522789.5:c.382G>A | ENSP00000428015.1:p.Gly128Ser | |
| ENST00000618342.1:c.1162G>A | ENSP00000484802.1:p.Gly388Ser | |
| ENST00000620350.4:c.1162G>A | ENSP00000484634.1:p.Gly388Ser | |
| NM_012472.4:c.1162G>A | NP_036604.2:p.Gly388Ser | |
| NR_073525.1:n.1277G>A | ||
| XM_006716538.2:c.1180G>A | XP_006716601.2:p.Gly394Ser | |
| XM_011516950.1:c.1120G>A | XP_011515252.1:p.Gly374Ser | |
| XM_011516952.1:c.916G>A | XP_011515254.1:p.Gly306Ser | |
| XM_011516953.1:c.802G>A | XP_011515255.1:p.Gly268Ser | |
| XM_011516954.1:c.802G>A | XP_011515256.1:p.Gly268Ser | |
| XR_428377.2:n.1305G>A | ||
| NM_001321961.1:c.1102G>A | NP_001308890.1:p.Gly368Ser | |
| NM_001321962.1:c.916G>A | NP_001308891.1:p.Gly306Ser | |
| NM_001321963.1:c.802G>A | NP_001308892.1:p.Gly268Ser | |
| NM_001321964.1:c.802G>A | NP_001308893.1:p.Gly268Ser | |
| NM_001321965.1:c.802G>A | NP_001308894.1:p.Gly268Ser | |
| NM_001321966.1:c.742G>A | NP_001308895.1:p.Gly248Ser | |
| NM_012472.5:c.1162G>A | NP_036604.2:p.Gly388Ser | |
| NR_073525.2:n.1277G>A | ||
| NR_135905.1:n.1375G>A | ||
| NR_135906.1:n.816G>A | ||
| NR_135907.1:n.1062G>A | ||
| NR_135908.1:n.756G>A | ||
| NR_135909.1:n.1180G>A | ||
| NR_135910.1:n.1487G>A | ||
| NR_135911.1:n.1566G>A | ||
| NR_135912.1:n.2125G>A | ||
| NR_135913.1:n.1812G>A | ||
| XM_006716538.3:c.1180G>A | XP_006716601.2:p.Gly394Ser | |
| XM_011516950.2:c.1120G>A | XP_011515252.1:p.Gly374Ser | |
| XM_017013296.1:c.1060G>A | XP_016868785.1:p.Gly354Ser | |
| XM_017013297.1:c.802G>A | XP_016868786.1:p.Gly268Ser | |
| XM_017013298.1:c.802G>A | XP_016868787.1:p.Gly268Ser | |
| NM_012472.6:c.1162G>A MANE Select | NP_036604.2:p.Gly388Ser | |
| NM_001321961.2:c.1102G>A | NP_001308890.1:p.Gly368Ser | |
| NM_001321962.2:c.916G>A | NP_001308891.1:p.Gly306Ser | |
| NM_001321963.2:c.802G>A | NP_001308892.1:p.Gly268Ser | |
| NM_001321964.2:c.802G>A | NP_001308893.1:p.Gly268Ser | |
| NM_001321965.2:c.802G>A | NP_001308894.1:p.Gly268Ser | |
| NM_001321966.2:c.742G>A | NP_001308895.1:p.Gly248Ser | |
| NR_073525.3:n.1205G>A | ||
| NR_135905.2:n.1303G>A | ||
| NR_135906.2:n.744G>A | ||
| NR_135907.2:n.990G>A | ||
| NR_135908.2:n.684G>A | ||
| NR_135909.2:n.1200G>A | ||
| NR_135910.2:n.1550G>A | ||
| NR_135911.2:n.1670G>A | ||
| NR_135912.2:n.2229G>A | ||
| NR_135913.2:n.1916G>A |