Linked Data
ClinVar Variation Id:
46220
dbSNP Id:
rs34332949
ExAC:
8:102571013 C / T
gnomAD v2:
8-102571013-C-T
gnomAD v3:
8-101558785-C-T
gnomAD v4:
8-101558785-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.101558785C>T , CM000670.2:g.101558785C>T | GRCh38 |
| NC_000008.10:g.102571013C>T , CM000670.1:g.102571013C>T | GRCh37 |
| NC_000008.9:g.102640189C>T | NCBI36 |
| NG_011971.1:g.71346C>T | |
| NG_011971.2:g.71346C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646743.1:c.651C>T MANE Select | ENSP00000495564.1:p.Ser217= | |
| ENST00000251808.7:c.651C>T | ENSP00000251808.3:p.Ser217= | |
| ENST00000395927.1:c.603C>T | ENSP00000379260.1:p.Ser201= | |
| NM_024915.3:c.651C>T | NP_079191.2:p.Ser217= | |
| XM_011517305.1:c.603C>T | XP_011515607.1:p.Ser201= | |
| XM_011517306.1:c.603C>T | XP_011515608.1:p.Ser201= | |
| XM_011517307.1:c.651C>T | XP_011515609.1:p.Ser217= | |
| NM_001330593.1:c.603C>T | NP_001317522.1:p.Ser201= | |
| XM_011517306.3:c.603C>T | XP_011515608.1:p.Ser201= | |
| XM_011517307.3:c.651C>T | XP_011515609.1:p.Ser217= | |
| NM_001330593.2:c.603C>T | NP_001317522.1:p.Ser201= | |
| NM_024915.4:c.651C>T MANE Select | NP_079191.2:p.Ser217= |