Linked Data
ClinVar Variation Id:
208997
dbSNP Id:
rs145742175
ExAC:
10:28233225 C / A
gnomAD v2:
10-28233225-C-A
gnomAD v3:
10-27944296-C-A
gnomAD v4:
10-27944296-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.27944296C>A , CM000672.2:g.27944296C>A | GRCh38 |
| NC_000010.10:g.28233225C>A , CM000672.1:g.28233225C>A | GRCh37 |
| NC_000010.9:g.28273231C>A | NCBI36 |
| NG_042820.1:g.59755G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305242.10:c.1669G>T MANE Select | ENSP00000306410.5:p.Glu557Ter | |
| ENST00000672841.1:c.745G>T | ENSP00000499983.1:p.Glu249Ter | |
| ENST00000672877.1:c.244G>T | ENSP00000500120.1:p.Glu82Ter | |
| ENST00000673384.1:c.745G>T | ENSP00000500856.1:p.Glu249Ter | |
| ENST00000673439.1:c.1669G>T | ENSP00000500782.1:p.Glu557Ter | |
| ENST00000305242.9:c.1669G>T | ENSP00000306410.5:p.Glu557Ter | |
| NM_001290020.1:c.1669G>T | NP_001276949.1:p.Glu557Ter | |
| NM_001290021.1:c.244G>T | NP_001276950.1:p.Glu82Ter | |
| NM_001312689.1:c.745G>T | NP_001299618.1:p.Glu249Ter | |
| NM_018076.3:c.1669G>T | NP_060546.2:p.Glu557Ter | |
| NM_018076.4:c.1669G>T | NP_060546.2:p.Glu557Ter | |
| XM_011519526.1:c.1669G>T | XP_011517828.1:p.Glu557Ter | |
| XM_011519527.1:c.1669G>T | XP_011517829.1:p.Glu557Ter | |
| XM_011519528.1:c.1669G>T | XP_011517830.1:p.Glu557Ter | |
| XM_011519529.1:c.1669G>T | XP_011517831.1:p.Glu557Ter | |
| XM_011519530.1:c.1669G>T | XP_011517832.1:p.Glu557Ter | |
| XM_011519531.1:c.1669G>T | XP_011517833.1:p.Glu557Ter | |
| XM_011519532.1:c.1533+520G>T | XP_011517834.1:n.1533+520G>T | |
| XM_011519533.1:c.745G>T | XP_011517835.1:p.Glu249Ter | |
| XM_011519534.1:c.745G>T | XP_011517836.1:p.Glu249Ter | |
| XM_011519535.1:c.583G>T | XP_011517837.1:p.Glu195Ter | |
| XM_011519536.1:c.1669G>T | XP_011517838.1:p.Glu557Ter | |
| XM_011519537.1:c.244G>T | XP_011517839.1:p.Glu82Ter | |
| XM_017016371.1:c.1669G>T | XP_016871860.1:p.Glu557Ter | |
| XM_024448049.1:c.1669G>T | XP_024303817.1:p.Glu557Ter | |
| XM_024448050.1:c.1669G>T | XP_024303818.1:p.Glu557Ter | |
| XM_024448051.1:c.1669G>T | XP_024303819.1:p.Glu557Ter | |
| XM_024448052.1:c.1669G>T | XP_024303820.1:p.Glu557Ter | |
| XM_024448053.1:c.1669G>T | XP_024303821.1:p.Glu557Ter | |
| XM_024448054.1:c.1533+520G>T | XP_024303822.1:n.1533+520G>T | |
| XM_024448055.1:c.745G>T | XP_024303823.1:p.Glu249Ter | |
| XM_024448056.1:c.745G>T | XP_024303824.1:p.Glu249Ter | |
| XM_024448057.1:c.583G>T | XP_024303825.1:p.Glu195Ter | |
| XM_024448058.1:c.244G>T | XP_024303826.1:p.Glu82Ter | |
| NM_001290020.2:c.1669G>T | NP_001276949.1:p.Glu557Ter | |
| NM_001290021.2:c.244G>T | NP_001276950.1:p.Glu82Ter | |
| NM_001312689.2:c.745G>T | NP_001299618.1:p.Glu249Ter | |
| NM_018076.5:c.1669G>T MANE Select | NP_060546.2:p.Glu557Ter |