Linked Data
dbSNP Id:
rs11264359
gnomAD v2:
1-155282829-A-G
gnomAD v3:
1-155313038-A-G
gnomAD v4:
1-155313038-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155313038A>G , CM000663.2:g.155313038A>G | GRCh38 |
| NC_000001.10:g.155282829A>G , CM000663.1:g.155282829A>G | GRCh37 |
| NC_000001.9:g.153549453A>G | NCBI36 |
| NG_045218.1:g.9291A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368356.9:c.480+643A>G MANE Select | ENSP00000357340.4:n.480+643A>G | |
| ENST00000356657.10:c.480+643A>G | ENSP00000349078.6:n.480+643A>G | |
| ENST00000368356.8:c.480+643A>G | ENSP00000357340.4:n.480+643A>G | |
| ENST00000447866.5:c.282+643A>G | ENSP00000391755.1:n.282+643A>G | |
| ENST00000461507.5:n.446+643A>G | ||
| ENST00000465559.5:c.480+643A>G | ENSP00000484099.1:n.480+643A>G | |
| ENST00000467076.5:c.282+643A>G | ENSP00000480142.1:n.282+643A>G | |
| ENST00000468479.5:n.494+643A>G | ||
| ENST00000470171.5:n.392+643A>G | ||
| ENST00000471117.5:n.244+643A>G | ||
| ENST00000474345.5:c.*157+643A>G | ENSP00000478032.1:n.*157+643A>G | |
| ENST00000477057.5:n.375+643A>G | ||
| ENST00000489003.5:n.376+643A>G | ||
| ENST00000491013.5:c.480+643A>G | ENSP00000479557.1:n.480+643A>G | |
| ENST00000495308.5:n.377+643A>G | ||
| ENST00000611010.4:c.-34+643A>G | ENSP00000483188.1:n.-34+643A>G | |
| ENST00000612683.1:c.282+643A>G | ENSP00000478235.1:n.282+643A>G | |
| NM_001135821.1:c.480+643A>G | NP_001129293.1:n.480+643A>G | |
| NM_001135822.1:c.282+643A>G | NP_001129294.1:n.282+643A>G | |
| NM_001242824.1:c.282+643A>G | NP_001229753.1:n.282+643A>G | |
| NM_001242825.1:c.-34+643A>G | NP_001229754.1:n.-34+643A>G | |
| NM_002004.3:c.480+643A>G | NP_001995.1:n.480+643A>G | |
| XM_005244962.1:c.282+643A>G | XP_005245019.1:n.282+643A>G | |
| XM_005244963.1:c.282+643A>G | XP_005245020.1:n.282+643A>G | |
| XM_024454066.1:c.480+643A>G | XP_024309834.1:n.480+643A>G | |
| XM_024454070.1:c.480+643A>G | XP_024309838.1:n.480+643A>G | |
| XM_024454071.1:c.282+643A>G | XP_024309839.1:n.282+643A>G | |
| XM_024454072.1:c.282+643A>G | XP_024309840.1:n.282+643A>G | |
| XM_024454073.1:c.282+643A>G | XP_024309841.1:n.282+643A>G | |
| XM_024454074.1:c.282+643A>G | XP_024309842.1:n.282+643A>G | |
| XM_024454076.1:c.-34+643A>G | XP_024309844.1:n.-34+643A>G | |
| NM_001135821.2:c.480+643A>G | NP_001129293.1:n.480+643A>G | |
| NM_001135822.2:c.282+643A>G | NP_001129294.1:n.282+643A>G | |
| NM_001242824.2:c.282+643A>G | NP_001229753.1:n.282+643A>G | |
| NM_002004.4:c.480+643A>G MANE Select | NP_001995.1:n.480+643A>G | |
| NM_001242825.2:c.-34+643A>G | NP_001229754.1:n.-34+643A>G | |
| NM_001378424.1:c.282+643A>G | NP_001365353.1:n.282+643A>G | |
| NM_001378425.1:c.282+643A>G | NP_001365354.1:n.282+643A>G |