Linked Data
ClinVar Variation Id:
260270
ClinVar RCV Id:
RCV000242752
dbSNP Id:
rs557554343
ExAC:
8:133595970 C / T
gnomAD v2:
8-133595970-C-T
gnomAD v3:
8-132583723-C-T
gnomAD v4:
8-132583723-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132583723C>T , CM000670.2:g.132583723C>T | GRCh38 |
| NC_000008.10:g.133595970C>T , CM000670.1:g.133595970C>T | GRCh37 |
| NC_000008.9:g.133665152C>T | NCBI36 |
| NG_033068.1:g.96894G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620350.5:c.1197G>A MANE Select | ENSP00000484634.1:p.Ser399= | |
| ENST00000250173.5:c.1188G>A | ENSP00000250173.2:p.Ser396= | |
| ENST00000518642.5:c.1188G>A | ENSP00000428610.1:p.Ser396= | |
| ENST00000519595.5:c.1197G>A | ENSP00000429791.1:p.Ser399= | |
| ENST00000522597.1:n.466G>A | ||
| ENST00000522789.5:c.417G>A | ENSP00000428015.1:p.Ser139= | |
| ENST00000618342.1:c.1197G>A | ENSP00000484802.1:p.Ser399= | |
| ENST00000620350.4:c.1197G>A | ENSP00000484634.1:p.Ser399= | |
| NM_012472.4:c.1197G>A | NP_036604.2:p.Ser399= | |
| NR_073525.1:n.1312G>A | ||
| XM_006716538.2:c.1215G>A | XP_006716601.2:p.Ser405= | |
| XM_011516950.1:c.1155G>A | XP_011515252.1:p.Ser385= | |
| XM_011516952.1:c.951G>A | XP_011515254.1:p.Ser317= | |
| XM_011516953.1:c.837G>A | XP_011515255.1:p.Ser279= | |
| XM_011516954.1:c.837G>A | XP_011515256.1:p.Ser279= | |
| XR_428377.2:n.1340G>A | ||
| NM_001321961.1:c.1137G>A | NP_001308890.1:p.Ser379= | |
| NM_001321962.1:c.951G>A | NP_001308891.1:p.Ser317= | |
| NM_001321963.1:c.837G>A | NP_001308892.1:p.Ser279= | |
| NM_001321964.1:c.837G>A | NP_001308893.1:p.Ser279= | |
| NM_001321965.1:c.837G>A | NP_001308894.1:p.Ser279= | |
| NM_001321966.1:c.777G>A | NP_001308895.1:p.Ser259= | |
| NM_012472.5:c.1197G>A | NP_036604.2:p.Ser399= | |
| NR_073525.2:n.1312G>A | ||
| NR_135905.1:n.1410G>A | ||
| NR_135906.1:n.851G>A | ||
| NR_135907.1:n.1097G>A | ||
| NR_135908.1:n.791G>A | ||
| NR_135909.1:n.1215G>A | ||
| NR_135910.1:n.1522G>A | ||
| NR_135911.1:n.1601G>A | ||
| NR_135912.1:n.2160G>A | ||
| NR_135913.1:n.1847G>A | ||
| XM_006716538.3:c.1215G>A | XP_006716601.2:p.Ser405= | |
| XM_011516950.2:c.1155G>A | XP_011515252.1:p.Ser385= | |
| XM_017013296.1:c.1095G>A | XP_016868785.1:p.Ser365= | |
| XM_017013297.1:c.837G>A | XP_016868786.1:p.Ser279= | |
| XM_017013298.1:c.837G>A | XP_016868787.1:p.Ser279= | |
| NM_012472.6:c.1197G>A MANE Select | NP_036604.2:p.Ser399= | |
| NM_001321961.2:c.1137G>A | NP_001308890.1:p.Ser379= | |
| NM_001321962.2:c.951G>A | NP_001308891.1:p.Ser317= | |
| NM_001321963.2:c.837G>A | NP_001308892.1:p.Ser279= | |
| NM_001321964.2:c.837G>A | NP_001308893.1:p.Ser279= | |
| NM_001321965.2:c.837G>A | NP_001308894.1:p.Ser279= | |
| NM_001321966.2:c.777G>A | NP_001308895.1:p.Ser259= | |
| NR_073525.3:n.1240G>A | ||
| NR_135905.2:n.1338G>A | ||
| NR_135906.2:n.779G>A | ||
| NR_135907.2:n.1025G>A | ||
| NR_135908.2:n.719G>A | ||
| NR_135909.2:n.1235G>A | ||
| NR_135910.2:n.1585G>A | ||
| NR_135911.2:n.1705G>A | ||
| NR_135912.2:n.2264G>A | ||
| NR_135913.2:n.1951G>A |