Linked Data
ClinVar Variation Id:
417175
dbSNP Id:
rs138588942
ExAC:
10:28101490 G / A
gnomAD v2:
10-28101490-G-A
gnomAD v3:
10-27812561-G-A
gnomAD v4:
10-27812561-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27812561G>A , CM000672.2:g.27812561G>A | GRCh38 |
| NC_000010.10:g.28101490G>A , CM000672.1:g.28101490G>A | GRCh37 |
| NC_000010.9:g.28141496G>A | NCBI36 |
| NG_042820.1:g.191490C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305242.10:c.3086C>T MANE Select | ENSP00000306410.5:p.Ser1029Phe | |
| ENST00000671855.1:c.165C>T | ||
| ENST00000672841.1:c.2162C>T | ENSP00000499983.1:p.Ser721Phe | |
| ENST00000672864.1:n.383C>T | ||
| ENST00000672877.1:c.1783C>T | ENSP00000500120.1:p.Pro595Ser | |
| ENST00000673384.1:c.2098-11709C>T | ENSP00000500856.1:n.2098-11709C>T | |
| ENST00000673439.1:c.3086C>T | ENSP00000500782.1:p.Ser1029Phe | |
| ENST00000305242.9:c.3086C>T | ENSP00000306410.5:p.Ser1029Phe | |
| ENST00000467083.1:n.235C>T | ||
| ENST00000481659.1:n.248C>T | ||
| NM_001290020.1:c.3086C>T | NP_001276949.1:p.Ser1029Phe | |
| NM_001290021.1:c.1783C>T | NP_001276950.1:p.Pro595Ser | |
| NM_001312689.1:c.2162C>T | NP_001299618.1:p.Ser721Phe | |
| NM_018076.3:c.3086C>T | NP_060546.2:p.Ser1029Phe | |
| NM_018076.4:c.3086C>T | NP_060546.2:p.Ser1029Phe | |
| XM_011519526.1:c.3146C>T | XP_011517828.1:p.Ser1049Phe | |
| XM_011519527.1:c.3146C>T | XP_011517829.1:p.Ser1049Phe | |
| XM_011519528.1:c.3146C>T | XP_011517830.1:p.Ser1049Phe | |
| XM_011519529.1:c.3146C>T | XP_011517831.1:p.Ser1049Phe | |
| XM_011519532.1:c.2936C>T | XP_011517834.1:p.Ser979Phe | |
| XM_011519533.1:c.2222C>T | XP_011517835.1:p.Ser741Phe | |
| XM_011519534.1:c.2222C>T | XP_011517836.1:p.Ser741Phe | |
| XM_011519535.1:c.2060C>T | XP_011517837.1:p.Ser687Phe | |
| XM_011519537.1:c.1721C>T | XP_011517839.1:p.Ser574Phe | |
| XM_024448049.1:c.3275C>T | XP_024303817.1:p.Ser1092Phe | |
| XM_024448050.1:c.3275C>T | XP_024303818.1:p.Ser1092Phe | |
| XM_024448051.1:c.3275C>T | XP_024303819.1:p.Ser1092Phe | |
| XM_024448052.1:c.3275C>T | XP_024303820.1:p.Ser1092Phe | |
| XM_024448053.1:c.3215C>T | XP_024303821.1:p.Ser1072Phe | |
| XM_024448054.1:c.3065C>T | XP_024303822.1:p.Ser1022Phe | |
| XM_024448055.1:c.2351C>T | XP_024303823.1:p.Ser784Phe | |
| XM_024448056.1:c.2351C>T | XP_024303824.1:p.Ser784Phe | |
| XM_024448057.1:c.2189C>T | XP_024303825.1:p.Ser730Phe | |
| XM_024448058.1:c.1850C>T | XP_024303826.1:p.Ser617Phe | |
| NM_001290020.2:c.3086C>T | NP_001276949.1:p.Ser1029Phe | |
| NM_001290021.2:c.1783C>T | NP_001276950.1:p.Pro595Ser | |
| NM_001312689.2:c.2162C>T | NP_001299618.1:p.Ser721Phe | |
| NM_018076.5:c.3086C>T MANE Select | NP_060546.2:p.Ser1029Phe |