Linked Data
dbSNP Id:
rs760814575
ExAC:
4:187130010 T / G
gnomAD v2:
4-187130010-T-G
gnomAD v4:
4-186208856-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186208856T>G , CM000666.2:g.186208856T>G | GRCh38 |
| NC_000004.11:g.187130010T>G , CM000666.1:g.187130010T>G | GRCh37 |
| NC_000004.10:g.187367004T>G | NCBI36 |
| NG_007965.1:g.22337T>G | |
| NG_012095.2:g.4878T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.1091-9T>G MANE Select | ENSP00000368079.4:n.1091-9T>G | |
| ENST00000378802.4:c.1091-9T>G | ENSP00000368079.4:n.1091-9T>G | |
| ENST00000502665.1:n.326-9T>G | ||
| ENST00000507209.5:n.5789-9T>G | ||
| ENST00000513354.5:n.181-9T>G | ||
| NM_207352.3:c.1091-9T>G | NP_997235.3:n.1091-9T>G | |
| XM_005262935.2:c.1091-9T>G | XP_005262992.1:n.1091-9T>G | |
| XM_006714184.2:c.695-9T>G | XP_006714247.1:n.695-9T>G | |
| XM_005262935.4:c.1091-9T>G | XP_005262992.1:n.1091-9T>G | |
| XM_017008037.1:c.695-9T>G | XP_016863526.1:n.695-9T>G | |
| NM_207352.4:c.1091-9T>G MANE Select | NP_997235.3:n.1091-9T>G |