Linked Data
dbSNP Id:
rs775870515
ExAC:
4:25146516 G / A
gnomAD v2:
4-25146516-G-A
gnomAD v3:
4-25144894-G-A
gnomAD v4:
4-25144894-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25144894G>A , CM000666.2:g.25144894G>A | GRCh38 |
| NC_000004.11:g.25146516G>A , CM000666.1:g.25146516G>A | GRCh37 |
| NC_000004.10:g.24755614G>A | NCBI36 |
| NG_028222.1:g.20689C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.935-29C>T MANE Select | ENSP00000371535.2:n.935-29C>T | |
| ENST00000680581.1:c.935-29C>T | ENSP00000506483.1:n.935-29C>T | |
| ENST00000680824.1:n.2151-29C>T | ||
| ENST00000681071.1:n.1227-29C>T | ||
| ENST00000681341.1:n.2076-29C>T | ||
| ENST00000681948.1:c.1190-29C>T | ENSP00000505991.1:n.1190-29C>T | |
| ENST00000358971.7:c.*733-29C>T | ENSP00000351857.3:n.*733-29C>T | |
| ENST00000382103.6:c.935-29C>T | ENSP00000371535.2:n.935-29C>T | |
| ENST00000503150.1:c.217-29C>T | ||
| ENST00000505513.1:n.235-29C>T | ||
| ENST00000514585.5:c.*636-29C>T | ENSP00000421880.1:n.*636-29C>T | |
| NM_016955.3:c.935-29C>T | NP_058651.3:n.935-29C>T | |
| XM_005248168.2:c.698-29C>T | XP_005248225.1:n.698-29C>T | |
| XM_006713965.2:c.755-29C>T | XP_006714028.1:n.755-29C>T | |
| XM_011513846.1:c.932-29C>T | XP_011512148.1:n.932-29C>T | |
| XM_011513847.1:c.902-29C>T | XP_011512149.1:n.902-29C>T | |
| XM_011513848.1:c.755-29C>T | XP_011512150.1:n.755-29C>T | |
| XM_011513846.2:c.932-29C>T | XP_011512148.1:n.932-29C>T | |
| XM_011513847.2:c.902-29C>T | XP_011512149.1:n.902-29C>T | |
| XM_017008277.1:c.1190-29C>T | XP_016863766.1:n.1190-29C>T | |
| XM_017008278.1:c.512-29C>T | XP_016863767.1:n.512-29C>T | |
| NM_016955.4:c.935-29C>T MANE Select | NP_058651.3:n.935-29C>T |