Linked Data
ClinVar Variation Id:
2887839
ClinVar RCV Id:
RCV003763673
dbSNP Id:
rs1256425988
gnomAD v2:
7-116411933-C-G
gnomAD v3:
7-116771879-C-G
gnomAD v4:
7-116771879-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116771879C>G , CM000669.2:g.116771879C>G | GRCh38 |
| NC_000007.13:g.116411933C>G , CM000669.1:g.116411933C>G | GRCh37 |
| NC_000007.12:g.116199169C>G | NCBI36 |
| NG_008996.1:g.104475C>G , LRG_662:g.104475C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436117.3:c.*523C>G | ENSP00000410980.2:n.*523C>G | |
| ENST00000318493.11:c.2972C>G | ENSP00000317272.6:p.Ala991Gly | |
| ENST00000397752.8:c.2918C>G MANE Select | ENSP00000380860.3:p.Ala973Gly | |
| ENST00000318493.10:c.2972C>G | ENSP00000317272.6:p.Ala991Gly | |
| ENST00000397752.7:c.2918C>G | ENSP00000380860.3:p.Ala973Gly | |
| ENST00000454623.1:c.283+225C>G | ENSP00000398140.1:n.283+225C>G | |
| NM_000245.2:c.2918C>G | NP_000236.2:p.Ala973Gly | |
| NM_001127500.1:c.2972C>G , LRG_662t1:c.2972C>G | NP_001120972.1:p.Ala991Gly | |
| XM_006715990.2:c.1628C>G | XP_006716053.1:p.Ala543Gly | |
| XM_006715991.2:c.1628C>G | XP_006716054.1:p.Ala543Gly | |
| XM_011516223.1:c.2975C>G | XP_011514525.1:p.Ala992Gly | |
| NM_000245.3:c.2918C>G | NP_000236.2:p.Ala973Gly | |
| NM_001127500.2:c.2972C>G | NP_001120972.1:p.Ala991Gly | |
| NM_001324402.1:c.1628C>G | NP_001311331.1:p.Ala543Gly | |
| XR_001744772.1:n.3049C>G | ||
| NM_001127500.3:c.2972C>G | NP_001120972.1:p.Ala991Gly | |
| NM_000245.4:c.2918C>G MANE Select | NP_000236.2:p.Ala973Gly | |
| NM_001324402.2:c.1628C>G | NP_001311331.1:p.Ala543Gly |