Linked Data
dbSNP Id:
rs112379278
gnomAD v2:
11-77992814-T-C
gnomAD v3:
11-78281768-T-C
gnomAD v4:
11-78281768-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78281768T>C , CM000673.2:g.78281768T>C | GRCh38 |
| NC_000011.9:g.77992814T>C , CM000673.1:g.77992814T>C | GRCh37 |
| NC_000011.8:g.77670462T>C | NCBI36 |
| NG_016171.1:g.141055A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361507.5:c.76-867A>G MANE Select | ENSP00000354952.4:n.76-867A>G | |
| ENST00000340149.6:c.-39-867A>G | ENSP00000343959.2:n.-39-867A>G | |
| ENST00000361507.4:c.76-867A>G | ENSP00000354952.4:n.76-867A>G | |
| ENST00000526030.1:n.255-867A>G | ||
| ENST00000528886.5:c.-39-867A>G | ENSP00000433762.1:n.-39-867A>G | |
| ENST00000530915.1:c.-39-867A>G | ENSP00000431868.1:n.-39-867A>G | |
| ENST00000534823.1:n.127-867A>G | ||
| NM_012296.3:c.-39-867A>G | NP_036428.1:n.-39-867A>G | |
| NM_080491.2:c.76-867A>G | NP_536739.1:n.76-867A>G | |
| XM_006718753.1:c.-39-867A>G | XP_006718816.1:n.-39-867A>G | |
| XM_011545408.1:c.-341-867A>G | XP_011543710.1:n.-341-867A>G | |
| XM_006718753.2:c.-39-867A>G | XP_006718816.1:n.-39-867A>G | |
| XM_011545408.3:c.-341-867A>G | XP_011543710.1:n.-341-867A>G | |
| XM_024448782.1:c.22-867A>G | XP_024304550.1:n.22-867A>G | |
| NM_080491.3:c.76-867A>G MANE Select | NP_536739.1:n.76-867A>G | |
| NM_012296.4:c.-39-867A>G | NP_036428.1:n.-39-867A>G |