Linked Data
ClinVar Variation Id:
454981
dbSNP Id:
rs145400360
ExAC:
2:26672935 G / T
gnomAD v2:
2-26672935-G-T
gnomAD v3:
2-26450067-G-T
gnomAD v4:
2-26450067-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26450067G>T , CM000664.2:g.26450067G>T | GRCh38 |
| NC_000002.11:g.26672935G>T , CM000664.1:g.26672935G>T | GRCh37 |
| NC_000002.10:g.26526439G>T | NCBI36 |
| NG_042824.1:g.53156G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288710.7:c.1581G>T MANE Select | ENSP00000288710.2:p.Arg527Ser | |
| ENST00000649059.1:c.1427G>T | ||
| ENST00000288710.6:c.1581G>T | ENSP00000288710.2:p.Arg527Ser | |
| ENST00000439066.2:n.311G>T | ||
| NM_145038.3:c.1581G>T | NP_659475.2:p.Arg527Ser | |
| NM_145038.4:c.1581G>T | NP_659475.2:p.Arg527Ser | |
| XM_005264637.3:c.963G>T | XP_005264694.1:p.Arg321Ser | |
| XM_005264638.3:c.561G>T | XP_005264695.1:p.Arg187Ser | |
| XM_017005271.1:c.561G>T | XP_016860760.1:p.Arg187Ser | |
| XM_024453218.1:c.561G>T | XP_024308986.1:p.Arg187Ser | |
| NM_145038.5:c.1581G>T MANE Select | NP_659475.2:p.Arg527Ser |