Linked Data
ClinVar Variation Id:
1348118
ClinVar RCV Id:
RCV002033279
dbSNP Id:
rs1487879565
gnomAD v2:
1-227170658-C-T
gnomAD v4:
1-226982957-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226982957C>T , CM000663.2:g.226982957C>T | GRCh38 |
| NC_000001.10:g.227170658C>T , CM000663.1:g.227170658C>T | GRCh37 |
| NC_000001.9:g.225237281C>T | NCBI36 |
| NG_012825.1:g.47721C>T | |
| NG_012825.2:g.90422C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366777.4:c.1003C>T MANE Select | ENSP00000355739.3:p.Pro335Ser | |
| ENST00000366779.6:c.*5730C>T | ENSP00000355741.2:n.*5730C>T | |
| ENST00000676884.1:c.*5852C>T | ENSP00000503200.1:n.*5852C>T | |
| ENST00000366777.3:c.1003C>T | ENSP00000355739.3:p.Pro335Ser | |
| ENST00000366778.5:c.847C>T | ENSP00000355740.1:p.Pro283Ser | |
| ENST00000366779.5:c.1003C>T | ENSP00000355741.1:p.Pro335Ser | |
| ENST00000478406.5:n.982C>T | ||
| ENST00000485462.5:n.393C>T | ||
| NM_020247.4:c.1003C>T | NP_064632.2:p.Pro335Ser | |
| XM_005273201.1:c.1003C>T | XP_005273258.1:p.Pro335Ser | |
| XM_011544238.1:c.1003C>T | XP_011542540.1:p.Pro335Ser | |
| XM_011544239.1:c.1003C>T | XP_011542541.1:p.Pro335Ser | |
| XM_011544240.1:c.1003C>T | XP_011542542.1:p.Pro335Ser | |
| XM_011544241.1:c.1003C>T | XP_011542543.1:p.Pro335Ser | |
| XM_011544239.2:c.1003C>T | XP_011542541.1:p.Pro335Ser | |
| XM_011544241.2:c.1003C>T | XP_011542543.1:p.Pro335Ser | |
| XM_017001852.1:c.1003C>T | XP_016857341.1:p.Pro335Ser | |
| XM_024448517.1:c.1003C>T | XP_024304285.1:p.Pro335Ser | |
| XM_024448518.1:c.1003C>T | XP_024304286.1:p.Pro335Ser | |
| NM_020247.5:c.1003C>T MANE Select | NP_064632.2:p.Pro335Ser |