Linked Data
dbSNP Id:
rs768135894
ExAC:
6:32149146 T / G
gnomAD v2:
6-32149146-T-G
gnomAD v3:
6-32181369-T-G
gnomAD v4:
6-32181369-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32181369T>G , CM000668.2:g.32181369T>G | GRCh38 |
| NC_000006.11:g.32149146T>G , CM000668.1:g.32149146T>G | GRCh37 |
| NC_000006.10:g.32257124T>G | NCBI36 |
| NG_029868.1:g.7954A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375076.9:c.1100A>C MANE Select | ENSP00000364217.4:p.Gln367Pro | |
| ENST00000375055.6:c.*30-130A>C | ENSP00000364195.2:n.*30-130A>C | |
| ENST00000375065.6:c.287A>C | ENSP00000364206.6:p.Gln96Pro | |
| ENST00000375067.7:c.945A>C | ENSP00000364208.3:p.Ala315= | |
| ENST00000375069.7:c.1148A>C | ENSP00000364210.4:p.Gln383Pro | |
| ENST00000375070.7:c.770A>C | ENSP00000364211.4:p.Gln257Pro | |
| ENST00000375076.8:c.1100A>C | ENSP00000364217.4:p.Gln367Pro | |
| ENST00000438221.6:c.*30-130A>C | ENSP00000387887.2:n.*30-130A>C | |
| ENST00000469940.5:n.267A>C | ||
| ENST00000473619.5:n.642A>C | ||
| ENST00000484849.5:n.1307A>C | ||
| ENST00000488669.5:n.616-130A>C | ||
| ENST00000620802.4:c.347A>C | ENSP00000484081.1:p.Gln116Pro | |
| NM_001136.4:c.1100A>C | NP_001127.1:p.Gln367Pro | |
| NM_001206929.1:c.1148A>C | NP_001193858.1:p.Gln383Pro | |
| NM_001206932.1:c.1058A>C | NP_001193861.1:p.Gln353Pro | |
| NM_001206934.1:c.*30-130A>C | NP_001193863.1:n.*30-130A>C | |
| NM_001206936.1:c.1022-130A>C | NP_001193865.1:n.1022-130A>C | |
| NM_001206940.1:c.*30-130A>C | NP_001193869.1:n.*30-130A>C | |
| NM_001206954.1:c.932-130A>C | NP_001193883.1:n.932-130A>C | |
| NM_001206966.1:c.*29+155A>C | NP_001193895.1:n.*29+155A>C | |
| NM_172197.2:c.945A>C | NP_751947.1:p.Ala315= | |
| NR_038190.1:n.1383A>C | ||
| XM_017010328.2:c.1073-130A>C | XP_016865817.1:n.1073-130A>C | |
| XR_001743189.2:n.1164A>C | ||
| XR_001743190.2:n.1116A>C | ||
| NM_001136.5:c.1100A>C MANE Select | NP_001127.1:p.Gln367Pro | |
| NM_001206932.2:c.1058A>C | NP_001193861.1:p.Gln353Pro | |
| NM_001206936.2:c.1022-130A>C | NP_001193865.1:n.1022-130A>C | |
| NM_001206940.2:c.*30-130A>C | NP_001193869.1:n.*30-130A>C | |
| NM_001206954.2:c.932-130A>C | NP_001193883.1:n.932-130A>C | |
| NM_001206966.2:c.*29+155A>C | NP_001193895.1:n.*29+155A>C | |
| NM_172197.3:c.945A>C | NP_751947.1:p.Ala315= | |
| NR_038190.2:n.1314A>C | ||
| NM_001206929.2:c.1148A>C | NP_001193858.1:p.Gln383Pro | |
| NM_001206934.2:c.*30-130A>C | NP_001193863.1:n.*30-130A>C |