Linked Data
ClinVar Variation Id:
5246
dbSNP Id:
rs386834008
ExAC:
17:57141716 C / T
gnomAD v2:
17-57141716-C-T
gnomAD v4:
17-59064355-C-T
PubMed:
PMID:17100991
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.59064355C>T , CM000679.2:g.59064355C>T | GRCh38 |
| NC_000017.10:g.57141716C>T , CM000679.1:g.57141716C>T | GRCh37 |
| NC_000017.9:g.54496498C>T | NCBI36 |
| NG_009298.1:g.47551G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262294.12:c.860G>A MANE Select | ENSP00000262294.7:p.Ser287Asn | |
| ENST00000262294.11:c.860G>A | ENSP00000262294.7:p.Ser287Asn | |
| ENST00000393065.6:c.758G>A | ENSP00000376784.2:p.Ser253Asn | |
| ENST00000393066.7:c.860G>A | ENSP00000376785.3:p.Ser287Asn | |
| ENST00000577554.5:c.*732G>A | ENSP00000462340.1:n.*732G>A | |
| ENST00000581468.1:c.482G>A | ENSP00000462863.1:p.Ser161Asn | |
| ENST00000582852.1:n.298G>A | ||
| NM_001005207.2:c.860G>A | NP_001005207.1:p.Ser287Asn | |
| NM_015294.3:c.860G>A | NP_056109.1:p.Ser287Asn | |
| XM_005257385.1:c.860G>A | XP_005257442.1:p.Ser287Asn | |
| XM_005257387.1:c.758G>A | XP_005257444.1:p.Ser253Asn | |
| XM_005257389.1:c.860G>A | XP_005257446.1:p.Ser287Asn | |
| XM_005257390.1:c.860G>A | XP_005257447.1:p.Ser287Asn | |
| XM_011524831.1:c.860G>A | XP_011523133.1:p.Ser287Asn | |
| XM_011524832.1:c.860G>A | XP_011523134.1:p.Ser287Asn | |
| XM_011524833.1:c.810-1707G>A | XP_011523135.1:n.810-1707G>A | |
| XM_011524834.1:c.758G>A | XP_011523136.1:p.Ser253Asn | |
| XM_011524835.1:c.860G>A | XP_011523137.1:p.Ser287Asn | |
| XM_011524836.1:c.860G>A | XP_011523138.1:p.Ser287Asn | |
| XM_011524837.1:c.860G>A | XP_011523139.1:p.Ser287Asn | |
| NM_001005207.4:c.860G>A | NP_001005207.1:p.Ser287Asn | |
| NM_001320987.2:c.758G>A | NP_001307916.1:p.Ser253Asn | |
| NM_001320988.2:c.860G>A | NP_001307917.1:p.Ser287Asn | |
| NM_001320989.2:c.860G>A | NP_001307918.1:p.Ser287Asn | |
| NM_001320990.2:c.494G>A | NP_001307919.1:p.Ser165Asn | |
| NM_001353082.1:c.758G>A | NP_001340011.1:p.Ser253Asn | |
| NM_001353083.1:c.125G>A | NP_001340012.1:p.Ser42Asn | |
| NM_001353084.1:c.860G>A | NP_001340013.1:p.Ser287Asn | |
| NM_001353085.1:c.398G>A | NP_001340014.1:p.Ser133Asn | |
| NM_001353086.1:c.810-1707G>A | NP_001340015.1:n.810-1707G>A | |
| NM_015294.5:c.860G>A | NP_056109.1:p.Ser287Asn | |
| NR_148346.1:n.1363G>A | ||
| NR_148347.1:n.1261G>A | ||
| XM_011524832.2:c.860G>A | XP_011523134.1:p.Ser287Asn | |
| XM_017024662.1:c.860G>A | XP_016880151.1:p.Ser287Asn | |
| XM_017024663.2:c.860G>A | XP_016880152.1:p.Ser287Asn | |
| XM_017024664.1:c.810-1707G>A | XP_016880153.1:n.810-1707G>A | |
| XM_017024665.1:c.758G>A | XP_016880154.1:p.Ser253Asn | |
| XM_017024667.1:c.810-1707G>A | XP_016880156.1:n.810-1707G>A | |
| XM_017024669.2:c.708-1707G>A | XP_016880158.1:n.708-1707G>A | |
| XM_017024670.2:c.758G>A | XP_016880159.1:p.Ser253Asn | |
| XM_017024671.2:c.398G>A | XP_016880160.1:p.Ser133Asn | |
| XM_017024672.1:c.398G>A | XP_016880161.1:p.Ser133Asn | |
| XM_017024673.2:c.125G>A | XP_016880162.1:p.Ser42Asn | |
| XM_024450765.1:c.398G>A | XP_024306533.1:p.Ser133Asn | |
| NM_015294.6:c.860G>A MANE Select | NP_056109.1:p.Ser287Asn | |
| NM_001005207.5:c.860G>A | NP_001005207.1:p.Ser287Asn | |
| NM_001320987.3:c.758G>A | NP_001307916.1:p.Ser253Asn | |
| NM_001320988.3:c.860G>A | NP_001307917.1:p.Ser287Asn | |
| NM_001320989.3:c.860G>A | NP_001307918.1:p.Ser287Asn | |
| NM_001320990.3:c.494G>A | NP_001307919.1:p.Ser165Asn | |
| NM_001353082.2:c.758G>A | NP_001340011.1:p.Ser253Asn | |
| NM_001353083.2:c.125G>A | NP_001340012.1:p.Ser42Asn | |
| NM_001353084.2:c.860G>A | NP_001340013.1:p.Ser287Asn | |
| NM_001353085.2:c.398G>A | NP_001340014.1:p.Ser133Asn | |
| NM_001353086.2:c.810-1707G>A | NP_001340015.1:n.810-1707G>A | |
| NR_148346.2:n.1279G>A | ||
| NR_148347.2:n.1177G>A |