Linked Data
ClinVar Variation Id:
1464834
dbSNP Id:
rs1413437455
gnomAD v2:
20-52781020-G-C
gnomAD v3:
20-54164481-G-C
gnomAD v4:
20-54164481-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.54164481G>C , CM000682.2:g.54164481G>C | GRCh38 |
| NC_000020.10:g.52781020G>C , CM000682.1:g.52781020G>C | GRCh37 |
| NC_000020.9:g.52214427G>C | NCBI36 |
| NG_008334.1:g.14497C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216862.8:c.815C>G MANE Select | ENSP00000216862.3:p.Thr272Ser | |
| ENST00000216862.7:c.815C>G | ENSP00000216862.3:p.Thr272Ser | |
| ENST00000395954.3:c.389C>G | ENSP00000379284.3:p.Thr130Ser | |
| ENST00000395955.7:c.815C>G | ENSP00000379285.3:p.Thr272Ser | |
| ENST00000487593.1:n.68C>G | ||
| NM_000782.4:c.815C>G | NP_000773.2:p.Thr272Ser | |
| NM_001128915.1:c.815C>G | NP_001122387.1:p.Thr272Ser | |
| XM_005260304.3:c.815C>G | XP_005260361.1:p.Thr272Ser | |
| XM_005260304.5:c.815C>G | XP_005260361.1:p.Thr272Ser | |
| XM_017027691.2:c.815C>G | XP_016883180.1:p.Thr272Ser | |
| XM_017027692.2:c.815C>G | XP_016883181.1:p.Thr272Ser | |
| XM_017027693.2:c.815C>G | XP_016883182.1:p.Thr272Ser | |
| NM_000782.5:c.815C>G MANE Select | NP_000773.2:p.Thr272Ser | |
| NM_001128915.2:c.815C>G | NP_001122387.1:p.Thr272Ser |