Linked Data
ClinVar Variation Id:
325119
ClinVar RCV Id:
RCV000346679
dbSNP Id:
rs571564589
gnomAD v2:
17-73717635-C-T
gnomAD v3:
17-75721555-C-T
gnomAD v4:
17-75721555-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75721555C>T , CM000679.2:g.75721555C>T | GRCh38 |
| NC_000017.10:g.73717635C>T , CM000679.1:g.73717635C>T | GRCh37 |
| NC_000017.9:g.71229230C>T | NCBI36 |
| NG_007372.1:g.5120C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449880.7:c.-68C>T | ENSP00000400217.2:n.-68C>T | |
| ENST00000200181.8:c.-68C>T MANE Select | ENSP00000200181.3:n.-68C>T | |
| ENST00000200181.7:c.-68C>T | ENSP00000200181.3:n.-68C>T | |
| ENST00000450894.7:c.-68C>T | ENSP00000405536.3:n.-68C>T | |
| ENST00000579662.5:c.-19C>T | ENSP00000463651.1:n.-19C>T | |
| ENST00000580542.5:n.47C>T | ||
| NM_000213.3:c.-68C>T | NP_000204.3:n.-68C>T | |
| NM_001005731.1:c.-68C>T | NP_001005731.1:n.-68C>T | |
| XM_005257309.2:c.-19C>T | XP_005257366.1:n.-19C>T | |
| XM_005257311.3:c.-68C>T | XP_005257368.1:n.-68C>T | |
| XM_005257312.2:c.-19C>T | XP_005257369.1:n.-19C>T | |
| NM_000213.4:c.-68C>T | NP_000204.3:n.-68C>T | |
| NM_001005731.2:c.-68C>T | NP_001005731.1:n.-68C>T | |
| NM_001321123.1:c.-19C>T | NP_001308052.1:n.-19C>T | |
| XM_005257311.4:c.-68C>T | XP_005257368.1:n.-68C>T | |
| NM_000213.5:c.-68C>T MANE Select | NP_000204.3:n.-68C>T | |
| NM_001005731.3:c.-68C>T | NP_001005731.1:n.-68C>T | |
| NM_001321123.2:c.-19C>T | NP_001308052.1:n.-19C>T |