Linked Data
dbSNP Id:
rs886888561
gnomAD v2:
1-40539666-A-C
gnomAD v3:
1-40073994-A-C
gnomAD v4:
1-40073994-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40073994A>C , CM000663.2:g.40073994A>C | GRCh38 |
| NC_000001.10:g.40539666A>C , CM000663.1:g.40539666A>C | GRCh37 |
| NC_000001.9:g.40312253A>C | NCBI36 |
| NG_009192.1:g.28477T>G , LRG_690:g.28477T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.*67T>G | ENSP00000394863.4:n.*67T>G | |
| ENST00000439754.6:c.*67T>G | ENSP00000403207.2:n.*67T>G | |
| ENST00000449045.7:c.*67T>G | ENSP00000392293.2:n.*67T>G | |
| ENST00000530076.6:c.*67T>G | ENSP00000434007.1:n.*67T>G | |
| ENST00000530704.6:c.*611T>G | ENSP00000431655.1:n.*611T>G | |
| ENST00000641083.1:c.1078T>G | ||
| ENST00000641236.1:n.1225T>G | ||
| ENST00000641319.1:c.*198T>G | ENSP00000493128.1:n.*198T>G | |
| ENST00000641381.1:c.410T>G | ||
| ENST00000641471.1:c.*67T>G | ENSP00000493146.1:n.*67T>G | |
| ENST00000641691.1:c.*840T>G | ENSP00000492910.1:n.*840T>G | |
| ENST00000642050.2:c.*67T>G MANE Select | ENSP00000493153.1:n.*67T>G | |
| ENST00000372775.2:n.385T>G | ||
| ENST00000433473.7:c.*67T>G | ENSP00000394863.3:n.*67T>G | |
| ENST00000439754.5:c.601T>G | ENSP00000403207.1:n.601T>G | |
| ENST00000449045.6:c.*67T>G | ENSP00000392293.2:n.*67T>G | |
| ENST00000529905.5:c.*67T>G | ENSP00000432053.1:n.*67T>G | |
| ENST00000530704.5:c.*611T>G | ENSP00000431655.1:n.*611T>G | |
| NM_000310.3:c.*67T>G , LRG_690t1:c.*67T>G | NP_000301.1:n.*67T>G | |
| NM_001142604.1:c.*67T>G | NP_001136076.1:n.*67T>G | |
| XM_005271008.1:c.*67T>G | XP_005271065.1:n.*67T>G | |
| NM_001363695.1:c.*67T>G | NP_001350624.1:n.*67T>G | |
| NM_000310.4:c.*67T>G MANE Select | NP_000301.1:n.*67T>G | |
| NM_001142604.2:c.*67T>G | NP_001136076.1:n.*67T>G | |
| NM_001363695.2:c.*67T>G | NP_001350624.1:n.*67T>G |