Linked Data
dbSNP Id:
rs559420109
ExAC:
6:32149149 C / A
gnomAD v2:
6-32149149-C-A
gnomAD v4:
6-32181372-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32181372C>A , CM000668.2:g.32181372C>A | GRCh38 |
| NC_000006.11:g.32149149C>A , CM000668.1:g.32149149C>A | GRCh37 |
| NC_000006.10:g.32257127C>A | NCBI36 |
| NG_029868.1:g.7951G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375076.9:c.1097G>T MANE Select | ENSP00000364217.4:p.Arg366Leu | |
| ENST00000375055.6:c.*30-133G>T | ENSP00000364195.2:n.*30-133G>T | |
| ENST00000375065.6:c.284G>T | ENSP00000364206.6:p.Arg95Leu | |
| ENST00000375067.7:c.942G>T | ENSP00000364208.3:p.Ala314= | |
| ENST00000375069.7:c.1145G>T | ENSP00000364210.4:p.Arg382Leu | |
| ENST00000375070.7:c.767G>T | ENSP00000364211.4:p.Arg256Leu | |
| ENST00000375076.8:c.1097G>T | ENSP00000364217.4:p.Arg366Leu | |
| ENST00000438221.6:c.*30-133G>T | ENSP00000387887.2:n.*30-133G>T | |
| ENST00000469940.5:n.264G>T | ||
| ENST00000473619.5:n.639G>T | ||
| ENST00000484849.5:n.1304G>T | ||
| ENST00000488669.5:n.616-133G>T | ||
| ENST00000620802.4:c.344G>T | ENSP00000484081.1:p.Arg115Leu | |
| NM_001136.4:c.1097G>T | NP_001127.1:p.Arg366Leu | |
| NM_001206929.1:c.1145G>T | NP_001193858.1:p.Arg382Leu | |
| NM_001206932.1:c.1055G>T | NP_001193861.1:p.Arg352Leu | |
| NM_001206934.1:c.*30-133G>T | NP_001193863.1:n.*30-133G>T | |
| NM_001206936.1:c.1022-133G>T | NP_001193865.1:n.1022-133G>T | |
| NM_001206940.1:c.*30-133G>T | NP_001193869.1:n.*30-133G>T | |
| NM_001206954.1:c.932-133G>T | NP_001193883.1:n.932-133G>T | |
| NM_001206966.1:c.*29+152G>T | NP_001193895.1:n.*29+152G>T | |
| NM_172197.2:c.942G>T | NP_751947.1:p.Ala314= | |
| NR_038190.1:n.1380G>T | ||
| XM_017010328.2:c.1073-133G>T | XP_016865817.1:n.1073-133G>T | |
| XR_001743189.2:n.1161G>T | ||
| XR_001743190.2:n.1113G>T | ||
| NM_001136.5:c.1097G>T MANE Select | NP_001127.1:p.Arg366Leu | |
| NM_001206932.2:c.1055G>T | NP_001193861.1:p.Arg352Leu | |
| NM_001206936.2:c.1022-133G>T | NP_001193865.1:n.1022-133G>T | |
| NM_001206940.2:c.*30-133G>T | NP_001193869.1:n.*30-133G>T | |
| NM_001206954.2:c.932-133G>T | NP_001193883.1:n.932-133G>T | |
| NM_001206966.2:c.*29+152G>T | NP_001193895.1:n.*29+152G>T | |
| NM_172197.3:c.942G>T | NP_751947.1:p.Ala314= | |
| NR_038190.2:n.1311G>T | ||
| NM_001206929.2:c.1145G>T | NP_001193858.1:p.Arg382Leu | |
| NM_001206934.2:c.*30-133G>T | NP_001193863.1:n.*30-133G>T |