Linked Data
dbSNP Id:
rs150522642
gnomAD v2:
4-25148924-G-A
gnomAD v3:
4-25147302-G-A
gnomAD v4:
4-25147302-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25147302G>A , CM000666.2:g.25147302G>A | GRCh38 |
| NC_000004.11:g.25148924G>A , CM000666.1:g.25148924G>A | GRCh37 |
| NC_000004.10:g.24758022G>A | NCBI36 |
| NG_028222.1:g.18281C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.805-2169C>T MANE Select | ENSP00000371535.2:n.805-2169C>T | |
| ENST00000680581.1:c.805-2169C>T | ENSP00000506483.1:n.805-2169C>T | |
| ENST00000680824.1:n.2021-2169C>T | ||
| ENST00000681071.1:n.1097-2169C>T | ||
| ENST00000681341.1:n.1946-2169C>T | ||
| ENST00000681948.1:c.1060-2169C>T | ENSP00000505991.1:n.1060-2169C>T | |
| ENST00000358971.7:c.*603-2169C>T | ENSP00000351857.3:n.*603-2169C>T | |
| ENST00000382103.6:c.805-2169C>T | ENSP00000371535.2:n.805-2169C>T | |
| ENST00000503150.1:c.217-2437C>T | ||
| ENST00000505513.1:n.235-2437C>T | ||
| ENST00000514585.5:c.*506-2169C>T | ENSP00000421880.1:n.*506-2169C>T | |
| NM_016955.3:c.805-2169C>T | NP_058651.3:n.805-2169C>T | |
| XM_005248168.2:c.568-2169C>T | XP_005248225.1:n.568-2169C>T | |
| XM_006713965.2:c.625-2169C>T | XP_006714028.1:n.625-2169C>T | |
| XM_011513846.1:c.802-2169C>T | XP_011512148.1:n.802-2169C>T | |
| XM_011513847.1:c.772-2169C>T | XP_011512149.1:n.772-2169C>T | |
| XM_011513848.1:c.625-2169C>T | XP_011512150.1:n.625-2169C>T | |
| XM_011513846.2:c.802-2169C>T | XP_011512148.1:n.802-2169C>T | |
| XM_011513847.2:c.772-2169C>T | XP_011512149.1:n.772-2169C>T | |
| XM_017008277.1:c.1060-2169C>T | XP_016863766.1:n.1060-2169C>T | |
| XM_017008278.1:c.382-2169C>T | XP_016863767.1:n.382-2169C>T | |
| NM_016955.4:c.805-2169C>T MANE Select | NP_058651.3:n.805-2169C>T |