Linked Data
ClinVar Variation Id:
216337
dbSNP Id:
rs138705565
ExAC:
3:37035118 G / A
gnomAD v2:
3-37035118-G-A
gnomAD v3:
3-36993627-G-A
gnomAD v4:
3-36993627-G-A
PubMed:
PMID:25503501
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993627G>A , CM000665.2:g.36993627G>A | GRCh38 |
| NC_000003.11:g.37035118G>A , CM000665.1:g.37035118G>A | GRCh37 |
| NC_000003.10:g.37010122G>A | NCBI36 |
| NG_007109.2:g.5278G>A , LRG_216:g.5278G>A | |
| NG_008418.1:g.4678C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.80G>A | ENSP00000416476.2:p.Arg27Gln | |
| ENST00000450420.6:c.80G>A | ENSP00000393006.2:p.Arg27Gln | |
| ENST00000456676.7:c.80G>A | ENSP00000416687.3:p.Arg27Gln | |
| ENST00000458009.6:c.80G>A | ENSP00000411066.2:p.Arg27Gln | |
| ENST00000616768.6:c.80G>A | ENSP00000480669.3:p.Arg27Gln | |
| ENST00000673673.2:c.80G>A | ENSP00000500979.2:p.Arg27Gln | |
| ENST00000231790.8:c.80G>A MANE Select | ENSP00000231790.3:p.Arg27Gln | |
| ENST00000432299.6:c.80G>A | ENSP00000416783.1:p.Arg27Gln | |
| ENST00000442249.6:n.95G>A | ||
| ENST00000673673.1:c.33G>A | ||
| ENST00000673713.1:n.111G>A | ||
| ENST00000673715.1:c.80G>A | ENSP00000501301.1:p.Arg27Gln | |
| ENST00000673897.1:c.80G>A | ENSP00000501109.1:p.Arg27Gln | |
| ENST00000673899.1:c.80G>A | ENSP00000501030.1:p.Arg27Gln | |
| ENST00000673947.1:c.80G>A | ENSP00000501304.1:p.Arg27Gln | |
| ENST00000673972.1:c.80G>A | ENSP00000501281.1:p.Arg27Gln | |
| ENST00000674111.1:c.80G>A | ENSP00000501162.1:p.Arg27Gln | |
| ENST00000231790.6:c.80G>A | ENSP00000231790.2:p.Arg27Gln | |
| ENST00000432299.5:c.80G>A | ENSP00000416783.1:p.Arg27Gln | |
| ENST00000442249.5:c.80G>A | ENSP00000387511.1:p.Arg27Gln | |
| ENST00000454028.5:c.80G>A | ENSP00000392649.1:p.Arg27Gln | |
| ENST00000456676.6:c.55G>A | ||
| ENST00000457004.5:c.80G>A | ENSP00000407773.1:p.Arg27Gln | |
| ENST00000536378.5:c.-553G>A | ENSP00000444286.2:n.-553G>A | |
| NM_000249.3:c.80G>A , LRG_216t1:c.80G>A | NP_000240.1:p.Arg27Gln | |
| NM_001258271.1:c.80G>A | NP_001245200.1:p.Arg27Gln | |
| NM_001258273.1:c.-553G>A | NP_001245202.1:n.-553G>A | |
| XM_005265161.1:c.80G>A | XP_005265218.1:p.Arg27Gln | |
| XM_005265164.1:c.-639G>A | XP_005265221.1:n.-639G>A | |
| NM_001167617.2:c.-437G>A | NP_001161089.1:n.-437G>A | |
| NM_001167618.2:c.-866G>A | NP_001161090.1:n.-866G>A | |
| NM_001167619.2:c.-779G>A | NP_001161091.1:n.-779G>A | |
| NM_001258274.2:c.-1016G>A | NP_001245203.1:n.-1016G>A | |
| NM_001354615.1:c.-547G>A | NP_001341544.1:n.-547G>A | |
| NM_001354616.1:c.-547G>A | NP_001341545.1:n.-547G>A | |
| NM_001354617.1:c.-639G>A | NP_001341546.1:n.-639G>A | |
| NM_001354618.1:c.-871G>A | NP_001341547.1:n.-871G>A | |
| NM_001354619.1:c.-995G>A | NP_001341548.1:n.-995G>A | |
| NM_001354620.1:c.-205G>A | NP_001341549.1:n.-205G>A | |
| NM_001354621.1:c.-964G>A | NP_001341550.1:n.-964G>A | |
| NM_001354622.1:c.-1077G>A | NP_001341551.1:n.-1077G>A | |
| NM_001354623.1:c.-986G>A | NP_001341552.1:n.-986G>A | |
| NM_001354624.1:c.-747G>A | NP_001341553.1:n.-747G>A | |
| NM_001354625.1:c.-645G>A | NP_001341554.1:n.-645G>A | |
| NM_001354626.1:c.-742G>A | NP_001341555.1:n.-742G>A | |
| NM_001354627.1:c.-974G>A | NP_001341556.1:n.-974G>A | |
| NM_001354628.1:c.80G>A | NP_001341557.1:p.Arg27Gln | |
| NM_001354629.1:c.80G>A | NP_001341558.1:p.Arg27Gln | |
| NM_001354630.1:c.80G>A | NP_001341559.1:p.Arg27Gln | |
| XM_005265161.2:c.80G>A | XP_005265218.1:p.Arg27Gln | |
| XM_017006450.2:c.-732G>A | XP_016861939.1:n.-732G>A | |
| NM_000249.4:c.80G>A MANE Select | NP_000240.1:p.Arg27Gln | |
| NM_001167617.3:c.-437G>A | NP_001161089.1:n.-437G>A | |
| NM_001167618.3:c.-866G>A | NP_001161090.1:n.-866G>A | |
| NM_001167619.3:c.-779G>A | NP_001161091.1:n.-779G>A | |
| NM_001258271.2:c.80G>A | NP_001245200.1:p.Arg27Gln | |
| NM_001258273.2:c.-553G>A | NP_001245202.1:n.-553G>A | |
| NM_001258274.3:c.-1016G>A | NP_001245203.1:n.-1016G>A | |
| NM_001354615.2:c.-547G>A | NP_001341544.1:n.-547G>A | |
| NM_001354616.2:c.-547G>A | NP_001341545.1:n.-547G>A | |
| NM_001354617.2:c.-639G>A | NP_001341546.1:n.-639G>A | |
| NM_001354618.2:c.-871G>A | NP_001341547.1:n.-871G>A | |
| NM_001354619.2:c.-995G>A | NP_001341548.1:n.-995G>A | |
| NM_001354620.2:c.-205G>A | NP_001341549.1:n.-205G>A | |
| NM_001354621.2:c.-964G>A | NP_001341550.1:n.-964G>A | |
| NM_001354622.2:c.-1077G>A | NP_001341551.1:n.-1077G>A | |
| NM_001354623.2:c.-986G>A | NP_001341552.1:n.-986G>A | |
| NM_001354624.2:c.-747G>A | NP_001341553.1:n.-747G>A | |
| NM_001354625.2:c.-645G>A | NP_001341554.1:n.-645G>A | |
| NM_001354626.2:c.-742G>A | NP_001341555.1:n.-742G>A | |
| NM_001354627.2:c.-974G>A | NP_001341556.1:n.-974G>A | |
| NM_001354628.2:c.80G>A | NP_001341557.1:p.Arg27Gln | |
| NM_001354629.2:c.80G>A | NP_001341558.1:p.Arg27Gln | |
| NM_001354630.2:c.80G>A | NP_001341559.1:p.Arg27Gln |