Linked Data
dbSNP Id:
rs2300478
gnomAD v2:
2-66781453-T-G
gnomAD v3:
2-66554321-T-G
gnomAD v4:
2-66554321-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.66554321T>G , CM000664.2:g.66554321T>G | GRCh38 |
| NC_000002.11:g.66781453T>G , CM000664.1:g.66781453T>G | GRCh37 |
| NC_000002.10:g.66634957T>G | NCBI36 |
| NG_011467.1:g.123922T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272369.14:c.965+6302T>G MANE Select | ENSP00000272369.8:n.965+6302T>G | |
| ENST00000272369.13:c.965+6302T>G | ENSP00000272369.8:n.965+6302T>G | |
| ENST00000398506.6:c.959+6302T>G | ENSP00000381518.2:n.959+6302T>G | |
| ENST00000409517.5:n.279+6302T>G | ||
| ENST00000450027.2:n.420+6302T>G | ||
| ENST00000475239.5:n.525+6302T>G | ||
| ENST00000488550.5:c.965+6302T>G | ENSP00000475161.1:n.965+6302T>G | |
| ENST00000495021.6:c.770+6302T>G | ENSP00000440571.1:n.770+6302T>G | |
| ENST00000542964.5:n.398+6302T>G | ||
| ENST00000560281.6:c.965+6302T>G | ENSP00000454209.1:n.965+6302T>G | |
| ENST00000606455.5:n.419+6302T>G | ||
| NM_002398.2:c.965+6302T>G | NP_002389.1:n.965+6302T>G | |
| XM_005264321.1:c.1013+6302T>G | XP_005264378.1:n.1013+6302T>G | |
| XM_005264322.1:c.965+6302T>G | XP_005264379.1:n.965+6302T>G | |
| XM_005264323.1:c.1013+6302T>G | XP_005264380.1:n.1013+6302T>G | |
| XM_005264324.3:c.770+6302T>G | XP_005264381.1:n.770+6302T>G | |
| XM_005264325.3:c.770+6302T>G | XP_005264382.1:n.770+6302T>G | |
| XR_244932.1:n.1599+6302T>G | ||
| XR_244933.1:n.1599+6302T>G | ||
| NM_002398.3:c.965+6302T>G MANE Select | NP_002389.1:n.965+6302T>G |