Linked Data
ClinVar Variation Id:
458178
dbSNP Id:
rs1195873978
gnomAD v2:
13-48934239-C-T
gnomAD v3:
13-48360103-C-T
gnomAD v4:
13-48360103-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48360103C>T , CM000675.2:g.48360103C>T | GRCh38 |
| NC_000013.10:g.48934239C>T , CM000675.1:g.48934239C>T | GRCh37 |
| NC_000013.9:g.47832240C>T | NCBI36 |
| NG_009009.1:g.61357C>T , LRG_517:g.61357C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.694C>T MANE Select | ENSP00000267163.4:p.Pro232Ser | |
| ENST00000650461.1:c.694C>T | ENSP00000497193.1:p.Pro232Ser | |
| ENST00000267163.4:c.694C>T | ENSP00000267163.4:p.Pro232Ser | |
| ENST00000467505.5:c.*62C>T | ENSP00000434702.1:n.*62C>T | |
| ENST00000525036.1:n.856C>T | ||
| NM_000321.2:c.694C>T , LRG_517t1:c.694C>T | NP_000312.2:p.Pro232Ser | |
| XM_011535171.1:c.433C>T | XP_011533473.1:p.Pro145Ser | |
| XM_011535171.2:c.433C>T | XP_011533473.1:p.Pro145Ser | |
| NM_000321.3:c.694C>T MANE Select | NP_000312.2:p.Pro232Ser |