Linked Data
dbSNP Id:
rs2237349
gnomAD v2:
7-28762963-C-T
gnomAD v3:
7-28723346-C-T
gnomAD v4:
7-28723346-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.28723346C>T , CM000669.2:g.28723346C>T | GRCh38 |
| NC_000007.13:g.28762963C>T , CM000669.1:g.28762963C>T | GRCh37 |
| NC_000007.12:g.28729488C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357727.7:c.592-876C>T MANE Select | ENSP00000350359.2:n.592-876C>T | |
| ENST00000357727.6:c.592-876C>T | ENSP00000350359.2:n.592-876C>T | |
| ENST00000396298.6:c.175-876C>T | ENSP00000379592.2:n.175-876C>T | |
| ENST00000396299.6:c.493-876C>T | ENSP00000379593.2:n.493-876C>T | |
| ENST00000396300.6:c.571-876C>T | ENSP00000379594.2:n.571-876C>T | |
| ENST00000409603.5:c.493-876C>T | ENSP00000387197.1:n.493-876C>T | |
| ENST00000426500.5:c.70-876C>T | ENSP00000394979.1:n.70-876C>T | |
| ENST00000461921.5:n.228-876C>T | ||
| ENST00000468391.5:n.189-876C>T | ||
| ENST00000484383.1:n.189-876C>T | ||
| NM_001011666.2:c.175-876C>T | NP_001011666.1:n.175-876C>T | |
| NM_004904.3:c.571-876C>T | NP_004895.2:n.571-876C>T | |
| NM_182898.3:c.592-876C>T | NP_878901.2:n.592-876C>T | |
| NM_182899.4:c.493-876C>T | NP_878902.2:n.493-876C>T | |
| XM_005249906.1:c.571-876C>T | XP_005249963.1:n.571-876C>T | |
| XM_011515616.1:c.571-876C>T | XP_011513918.1:n.571-876C>T | |
| XM_011515617.1:c.493-876C>T | XP_011513919.1:n.493-876C>T | |
| XM_017012806.1:c.571-876C>T | XP_016868295.1:n.571-876C>T | |
| XM_017012807.1:c.679-876C>T | XP_016868296.1:n.679-876C>T | |
| XM_017012808.1:c.592-876C>T | XP_016868297.1:n.592-876C>T | |
| XM_017012809.1:c.571-876C>T | XP_016868298.1:n.571-876C>T | |
| XM_017012810.1:c.175-876C>T | XP_016868299.1:n.175-876C>T | |
| XM_024447005.1:c.493-876C>T | XP_024302773.1:n.493-876C>T | |
| XR_001744893.2:n.364-876C>T | ||
| NM_182898.4:c.592-876C>T MANE Select | NP_878901.2:n.592-876C>T | |
| NM_001011666.3:c.175-876C>T | NP_001011666.1:n.175-876C>T | |
| NM_004904.4:c.571-876C>T | NP_004895.2:n.571-876C>T | |
| NM_182899.5:c.493-876C>T | NP_878902.2:n.493-876C>T |