Linked Data
dbSNP Id:
rs774752882
ExAC:
8:102555631 T / G
gnomAD v2:
8-102555631-T-G
gnomAD v4:
8-101543403-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.101543403T>G , CM000670.2:g.101543403T>G | GRCh38 |
| NC_000008.10:g.102555631T>G , CM000670.1:g.102555631T>G | GRCh37 |
| NC_000008.9:g.102624807T>G | NCBI36 |
| NG_011971.1:g.55964T>G | |
| NG_011971.2:g.55964T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646743.1:c.183T>G MANE Select | ENSP00000495564.1:p.Ala61= | |
| ENST00000251808.7:c.183T>G | ENSP00000251808.3:p.Ala61= | |
| ENST00000395927.1:c.135T>G | ENSP00000379260.1:p.Ala45= | |
| ENST00000472106.2:n.511T>G | ||
| NM_024915.3:c.183T>G | NP_079191.2:p.Ala61= | |
| XM_011517305.1:c.135T>G | XP_011515607.1:p.Ala45= | |
| XM_011517306.1:c.135T>G | XP_011515608.1:p.Ala45= | |
| XM_011517307.1:c.183T>G | XP_011515609.1:p.Ala61= | |
| NM_001330593.1:c.135T>G | NP_001317522.1:p.Ala45= | |
| XM_011517306.3:c.135T>G | XP_011515608.1:p.Ala45= | |
| XM_011517307.3:c.183T>G | XP_011515609.1:p.Ala61= | |
| NM_001330593.2:c.135T>G | NP_001317522.1:p.Ala45= | |
| NM_024915.4:c.183T>G MANE Select | NP_079191.2:p.Ala61= |