Linked Data
dbSNP Id:
rs774569538
ExAC:
6:32149326 C / A
gnomAD v2:
6-32149326-C-A
gnomAD v4:
6-32181549-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32181549C>A , CM000668.2:g.32181549C>A | GRCh38 |
| NC_000006.11:g.32149326C>A , CM000668.1:g.32149326C>A | GRCh37 |
| NC_000006.10:g.32257304C>A | NCBI36 |
| NG_029868.1:g.7774G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375076.9:c.991+57G>T MANE Select | ENSP00000364217.4:n.991+57G>T | |
| ENST00000375055.6:c.*4G>T | ENSP00000364195.2:n.*4G>T | |
| ENST00000375065.6:c.178+57G>T | ENSP00000364206.6:n.178+57G>T | |
| ENST00000375067.7:c.836+57G>T | ENSP00000364208.3:n.836+57G>T | |
| ENST00000375069.7:c.1039+57G>T | ENSP00000364210.4:n.1039+57G>T | |
| ENST00000375070.7:c.662-72G>T | ENSP00000364211.4:n.662-72G>T | |
| ENST00000375076.8:c.991+57G>T | ENSP00000364217.4:n.991+57G>T | |
| ENST00000438221.6:c.*4G>T | ENSP00000387887.2:n.*4G>T | |
| ENST00000469940.5:n.87G>T | ||
| ENST00000473619.5:n.533+57G>T | ||
| ENST00000484849.5:n.1198+57G>T | ||
| ENST00000488669.5:n.590G>T | ||
| ENST00000620802.4:c.283-116G>T | ENSP00000484081.1:n.283-116G>T | |
| NM_001136.4:c.991+57G>T | NP_001127.1:n.991+57G>T | |
| NM_001206929.1:c.1039+57G>T | NP_001193858.1:n.1039+57G>T | |
| NM_001206932.1:c.949+57G>T | NP_001193861.1:n.949+57G>T | |
| NM_001206934.1:c.*4G>T | NP_001193863.1:n.*4G>T | |
| NM_001206936.1:c.996G>T | NP_001193865.1:p.Trp332Cys | |
| NM_001206940.1:c.*4G>T | NP_001193869.1:n.*4G>T | |
| NM_001206954.1:c.906G>T | NP_001193883.1:p.Trp302Cys | |
| NM_001206966.1:c.*4G>T | NP_001193895.1:n.*4G>T | |
| NM_172197.2:c.836+57G>T | NP_751947.1:n.836+57G>T | |
| NR_038190.1:n.1274+57G>T | ||
| XM_017010328.2:c.1047G>T | XP_016865817.1:p.Trp349Cys | |
| XR_001743189.2:n.1055+57G>T | ||
| XR_001743190.2:n.1007+57G>T | ||
| NM_001136.5:c.991+57G>T MANE Select | NP_001127.1:n.991+57G>T | |
| NM_001206932.2:c.949+57G>T | NP_001193861.1:n.949+57G>T | |
| NM_001206936.2:c.996G>T | NP_001193865.1:p.Trp332Cys | |
| NM_001206940.2:c.*4G>T | NP_001193869.1:n.*4G>T | |
| NM_001206954.2:c.906G>T | NP_001193883.1:p.Trp302Cys | |
| NM_001206966.2:c.*4G>T | NP_001193895.1:n.*4G>T | |
| NM_172197.3:c.836+57G>T | NP_751947.1:n.836+57G>T | |
| NR_038190.2:n.1205+57G>T | ||
| NM_001206929.2:c.1039+57G>T | NP_001193858.1:n.1039+57G>T | |
| NM_001206934.2:c.*4G>T | NP_001193863.1:n.*4G>T |