Linked Data
dbSNP Id:
rs11845867
gnomAD v2:
14-33918038-C-G
gnomAD v3:
14-33448832-C-G
gnomAD v4:
14-33448832-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33448832C>G , CM000676.2:g.33448832C>G | GRCh38 |
| NC_000014.8:g.33918038C>G , CM000676.1:g.33918038C>G | GRCh37 |
| NC_000014.7:g.32987789C>G | NCBI36 |
| NG_013036.1:g.514580C>G | |
| NG_013036.2:g.514580C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356141.9:c.468+81564C>G MANE Select | ENSP00000348460.4:n.468+81564C>G | |
| ENST00000551008.6:c.297+81564C>G | ENSP00000447213.2:n.297+81564C>G | |
| ENST00000551634.6:c.486+81564C>G | ENSP00000448373.2:n.486+81564C>G | |
| ENST00000680362.1:c.368+54588C>G | ||
| ENST00000346562.6:c.372+81564C>G | ENSP00000319610.5:n.372+81564C>G | |
| ENST00000356141.8:c.468+81564C>G | ENSP00000348460.4:n.468+81564C>G | |
| ENST00000357798.9:c.429+81564C>G | ENSP00000350446.5:n.429+81564C>G | |
| ENST00000546849.1:c.198+81564C>G | ENSP00000446700.1:n.198+81564C>G | |
| ENST00000547068.5:c.156+81564C>G | ENSP00000449542.1:n.156+81564C>G | |
| ENST00000548645.5:c.378+81564C>G | ENSP00000448916.1:n.378+81564C>G | |
| ENST00000549770.1:n.328+81564C>G | ||
| ENST00000551008.5:c.162+81564C>G | ENSP00000447213.1:n.162+81564C>G | |
| ENST00000551492.5:c.483+81564C>G | ENSP00000450392.1:n.483+81564C>G | |
| ENST00000551634.5:c.399+81564C>G | ENSP00000448373.1:n.399+81564C>G | |
| NM_001164749.1:c.468+81564C>G | NP_001158221.1:n.468+81564C>G | |
| NM_001165893.1:c.378+81564C>G | NP_001159365.1:n.378+81564C>G | |
| NM_022123.2:c.372+81564C>G | NP_071406.1:n.372+81564C>G | |
| NM_173159.2:c.429+81564C>G | NP_775182.1:n.429+81564C>G | |
| XM_005267991.2:c.489+81564C>G | XP_005268048.1:n.489+81564C>G | |
| XM_005267992.2:c.483+81564C>G | XP_005268049.1:n.483+81564C>G | |
| XM_005267993.2:c.429+81564C>G | XP_005268050.1:n.429+81564C>G | |
| XM_011537067.1:c.519+81564C>G | XP_011535369.1:n.519+81564C>G | |
| XM_011537068.1:c.519+81564C>G | XP_011535370.1:n.519+81564C>G | |
| XM_011537069.1:c.489+81564C>G | XP_011535371.1:n.489+81564C>G | |
| XM_011537070.1:c.423+81564C>G | XP_011535372.1:n.423+81564C>G | |
| XM_011537071.1:c.399+81564C>G | XP_011535373.1:n.399+81564C>G | |
| XM_011537072.1:c.378+81564C>G | XP_011535374.1:n.378+81564C>G | |
| XM_011537073.1:c.162+81564C>G | XP_011535375.1:n.162+81564C>G | |
| XM_011537074.1:c.162+81564C>G | XP_011535376.1:n.162+81564C>G | |
| XM_005267991.3:c.576+81564C>G | XP_005268048.2:n.576+81564C>G | |
| XM_005267992.3:c.570+81564C>G | XP_005268049.2:n.570+81564C>G | |
| XM_011537067.2:c.519+81564C>G | XP_011535369.1:n.519+81564C>G | |
| XM_011537069.2:c.576+81564C>G | XP_011535371.2:n.576+81564C>G | |
| XM_011537070.2:c.423+81564C>G | XP_011535372.1:n.423+81564C>G | |
| XM_011537071.2:c.486+81564C>G | XP_011535373.2:n.486+81564C>G | |
| XM_011537072.2:c.378+81564C>G | XP_011535374.1:n.378+81564C>G | |
| XM_017021582.1:c.627+81564C>G | XP_016877071.1:n.627+81564C>G | |
| XM_017021583.1:c.627+81564C>G | XP_016877072.1:n.627+81564C>G | |
| XM_017021584.1:c.537+81564C>G | XP_016877073.1:n.537+81564C>G | |
| XM_017021585.1:c.486+81564C>G | XP_016877074.1:n.486+81564C>G | |
| XM_017021586.1:c.162+81564C>G | XP_016877075.1:n.162+81564C>G | |
| XM_017021587.1:c.162+81564C>G | XP_016877076.1:n.162+81564C>G | |
| XM_017021588.1:c.162+81564C>G | XP_016877077.1:n.162+81564C>G | |
| NM_001164749.2:c.468+81564C>G MANE Select | NP_001158221.1:n.468+81564C>G | |
| NM_001165893.2:c.378+81564C>G | NP_001159365.1:n.378+81564C>G | |
| NM_022123.3:c.372+81564C>G | NP_071406.1:n.372+81564C>G | |
| NM_173159.3:c.429+81564C>G | NP_775182.1:n.429+81564C>G | |
| NM_001394988.1:c.423+81564C>G | NP_001381917.1:n.423+81564C>G | |
| NM_001394989.1:c.378+81564C>G | NP_001381918.1:n.378+81564C>G |