Linked Data
ClinVar Variation Id:
1493247
ClinVar RCV Id:
RCV002012593
dbSNP Id:
rs757041347
ExAC:
17:8215430 C / T
gnomAD v2:
17-8215430-C-T
gnomAD v4:
17-8312112-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8312112C>T , CM000679.2:g.8312112C>T | GRCh38 |
| NC_000017.10:g.8215430C>T , CM000679.1:g.8215430C>T | GRCh37 |
| NC_000017.9:g.8156155C>T | NCBI36 |
| NG_034063.1:g.6875C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361926.8:c.73C>T MANE Select | ENSP00000355026.3:p.Pro25Ser | |
| ENST00000361926.7:c.73C>T | ENSP00000355026.3:p.Pro25Ser | |
| ENST00000421050.2:c.73C>T | ENSP00000412505.1:p.Pro25Ser | |
| ENST00000455564.3:n.186C>T | ||
| ENST00000579439.5:c.73C>T | ENSP00000464540.1:p.Pro25Ser | |
| ENST00000583529.1:c.73C>T | ENSP00000462796.1:p.Pro25Ser | |
| NM_025014.1:c.73C>T | NP_079290.1:p.Pro25Ser | |
| NM_173728.3:c.73C>T | NP_776089.2:p.Pro25Ser | |
| XM_011523734.1:c.73C>T | XP_011522036.1:p.Pro25Ser | |
| XM_011523735.1:c.73C>T | XP_011522037.1:p.Pro25Ser | |
| XM_011523736.1:c.73C>T | XP_011522038.1:p.Pro25Ser | |
| XM_011523734.2:c.73C>T | XP_011522036.1:p.Pro25Ser | |
| XM_011523736.2:c.73C>T | XP_011522038.1:p.Pro25Ser | |
| NM_173728.4:c.73C>T MANE Select | NP_776089.2:p.Pro25Ser | |
| NM_025014.2:c.73C>T | NP_079290.1:p.Pro25Ser |