Linked Data
dbSNP Id:
rs77490164
gnomAD v2:
6-124559732-C-T
gnomAD v3:
6-124238586-C-T
gnomAD v4:
6-124238586-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.124238586C>T , CM000668.2:g.124238586C>T | GRCh38 |
| NC_000006.11:g.124559732C>T , CM000668.1:g.124559732C>T | GRCh37 |
| NC_000006.10:g.124601431C>T | NCBI36 |
| NG_021365.1:g.439664C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368417.6:c.55-44419C>T MANE Select | ENSP00000357402.1:n.55-44419C>T | |
| ENST00000368416.5:c.55-44419C>T | ENSP00000357401.1:n.55-44419C>T | |
| ENST00000368417.5:c.55-44419C>T | ENSP00000357402.1:n.55-44419C>T | |
| ENST00000476571.1:n.179-44419C>T | ||
| ENST00000545433.2:c.52-44419C>T | ENSP00000437798.2:n.52-44419C>T | |
| NM_001040214.2:c.55-44419C>T | NP_001035304.1:n.55-44419C>T | |
| NM_001300737.1:c.52-44419C>T | NP_001287666.1:n.52-44419C>T | |
| NM_001300738.1:c.-230-44419C>T | NP_001287667.1:n.-230-44419C>T | |
| NM_001300740.1:c.-252-44419C>T | NP_001287669.1:n.-252-44419C>T | |
| NM_153355.4:c.55-44419C>T | NP_699186.2:n.55-44419C>T | |
| XM_005266834.2:c.55-44419C>T | XP_005266891.1:n.55-44419C>T | |
| XM_011535501.1:c.55-44419C>T | XP_011533803.1:n.55-44419C>T | |
| XM_011535502.1:c.52-44419C>T | XP_011533804.1:n.52-44419C>T | |
| XM_011535503.1:c.55-44419C>T | XP_011533805.1:n.55-44419C>T | |
| XM_011535501.3:c.55-44419C>T | XP_011533803.1:n.55-44419C>T | |
| XM_011535503.3:c.55-44419C>T | XP_011533805.1:n.55-44419C>T | |
| XM_017010318.2:c.55-44419C>T | XP_016865807.1:n.55-44419C>T | |
| XM_017010319.2:c.55-44419C>T | XP_016865808.1:n.55-44419C>T | |
| XM_024446340.1:c.52-44419C>T | XP_024302108.1:n.52-44419C>T | |
| NM_001040214.3:c.55-44419C>T MANE Select | NP_001035304.1:n.55-44419C>T | |
| NM_001300737.2:c.52-44419C>T | NP_001287666.1:n.52-44419C>T | |
| NM_001300738.2:c.-230-44419C>T | NP_001287667.1:n.-230-44419C>T | |
| NM_153355.5:c.55-44419C>T | NP_699186.2:n.55-44419C>T |