Linked Data
dbSNP Id:
rs749516412
ExAC:
4:119736667 G / A
gnomAD v2:
4-119736667-G-A
gnomAD v3:
4-118815512-G-A
gnomAD v4:
4-118815512-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.118815512G>A , CM000666.2:g.118815512G>A | GRCh38 |
| NC_000004.11:g.119736667G>A , CM000666.1:g.119736667G>A | GRCh37 |
| NC_000004.10:g.119956115G>A | NCBI36 |
| NG_042032.1:g.25660C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280551.11:c.612C>T MANE Select | ENSP00000280551.6:p.Ala204= | |
| ENST00000280551.10:c.612C>T | ENSP00000280551.6:p.Ala204= | |
| ENST00000419654.6:c.-721C>T | ENSP00000388324.2:n.-721C>T | |
| ENST00000506622.5:c.719C>T | ENSP00000427249.1:p.Pro240Leu | |
| ENST00000509818.5:c.463C>T | ENSP00000424085.1:p.Pro155Ser | |
| ENST00000514561.5:c.*586C>T | ENSP00000422717.1:n.*586C>T | |
| NM_014822.2:c.612C>T | NP_055637.2:p.Ala204= | |
| XM_005263378.1:c.612C>T | XP_005263435.1:p.Ala204= | |
| XM_005263379.1:c.612C>T | XP_005263436.1:p.Ala204= | |
| XM_011532435.1:c.612C>T | XP_011530737.1:p.Ala204= | |
| XM_011532436.1:c.612C>T | XP_011530738.1:p.Ala204= | |
| NM_001318066.1:c.612C>T | NP_001304995.1:p.Ala204= | |
| NM_014822.3:c.612C>T | NP_055637.2:p.Ala204= | |
| XM_005263379.3:c.612C>T | XP_005263436.1:p.Ala204= | |
| XM_024454293.1:c.612C>T | XP_024310061.1:p.Ala204= | |
| NM_014822.4:c.612C>T MANE Select | NP_055637.2:p.Ala204= | |
| NM_001318066.2:c.612C>T | NP_001304995.1:p.Ala204= |