Linked Data
dbSNP Id:
rs179997
gnomAD v2:
6-16318633-T-A
gnomAD v3:
6-16318402-T-A
gnomAD v4:
6-16318402-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16318402T>A , CM000668.2:g.16318402T>A | GRCh38 |
| NC_000006.11:g.16318633T>A , CM000668.1:g.16318633T>A | GRCh37 |
| NC_000006.10:g.16426612T>A | NCBI36 |
| NG_011571.1:g.448089A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000436367.6:c.1917+7992A>T MANE Select | ENSP00000416360.1:n.1917+7992A>T | |
| ENST00000244769.8:c.1917+7992A>T | ENSP00000244769.3:n.1917+7992A>T | |
| ENST00000436367.5:c.1917+7992A>T | ENSP00000416360.1:n.1917+7992A>T | |
| NM_000332.3:c.1917+7992A>T | NP_000323.2:n.1917+7992A>T | |
| NM_001128164.1:c.1917+7992A>T | NP_001121636.1:n.1917+7992A>T | |
| NM_001357857.1:c.*1330+7992A>T | NP_001344786.1:n.*1330+7992A>T | |
| NM_001357857.2:c.*1330+7992A>T | NP_001344786.1:n.*1330+7992A>T | |
| NM_001128164.2:c.1917+7992A>T MANE Select | NP_001121636.1:n.1917+7992A>T | |
| NM_000332.4:c.1917+7992A>T | NP_000323.2:n.1917+7992A>T |