Linked Data
ClinVar Variation Id:
1249009
dbSNP Id:
rs2075117
ExAC:
2:210843383 G / A
gnomAD v2:
2-210843383-G-A
gnomAD v3:
2-209978659-G-A
gnomAD v4:
2-209978659-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.209978659G>A , CM000664.2:g.209978659G>A | GRCh38 |
| NC_000002.11:g.210843383G>A , CM000664.1:g.210843383G>A | GRCh37 |
| NC_000002.10:g.210551628G>A | NCBI36 |
| NG_051361.1:g.211735G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673920.1:c.9069G>A MANE Select | ENSP00000501211.1:p.Gln3023= | |
| ENST00000673951.1:c.8865G>A | ENSP00000501012.1:p.Gln2955= | |
| ENST00000272845.10:c.8856G>A | ENSP00000272845.5:p.Gln2952= | |
| ENST00000333907.3:c.1449G>A | ENSP00000335576.2:p.Gln483= | |
| ENST00000439458.5:c.8871G>A | ENSP00000391088.1:p.Gln2957= | |
| ENST00000477924.1:n.1619G>A | ||
| NM_032504.1:c.8871G>A | NP_115893.1:p.Gln2957= | |
| NM_182587.3:c.8856G>A | NP_872393.3:p.Gln2952= | |
| XM_005246476.1:c.9066G>A | XP_005246533.1:p.Gln3022= | |
| XM_011511004.1:c.9111G>A | XP_011509306.1:p.Gln3037= | |
| XM_011511005.1:c.9108G>A | XP_011509307.1:p.Gln3036= | |
| XM_011511006.1:c.9105G>A | XP_011509308.1:p.Gln3035= | |
| XM_011511007.1:c.9075G>A | XP_011509309.1:p.Gln3025= | |
| XM_011511008.1:c.9111G>A | XP_011509310.1:p.Gln3037= | |
| XM_017003884.1:c.9096G>A | XP_016859373.1:p.Gln3032= | |
| XM_017003885.1:c.9069G>A | XP_016859374.1:p.Gln3023= | |
| XM_017003886.1:c.8985G>A | XP_016859375.1:p.Gln2995= | |
| XM_017003887.1:c.8907G>A | XP_016859376.1:p.Gln2969= | |
| XM_017003888.1:c.8865G>A | XP_016859377.1:p.Gln2955= | |
| XM_017003889.1:c.8862G>A | XP_016859378.1:p.Gln2954= | |
| XM_017003890.1:c.8850G>A | XP_016859379.1:p.Gln2950= | |
| XM_017003891.1:c.8757G>A | XP_016859380.1:p.Gln2919= | |
| XM_017003892.1:c.6594G>A | XP_016859381.1:p.Gln2198= | |
| XM_017003894.1:c.5295G>A | XP_016859383.1:p.Gln1765= | |
| XR_002959283.1:n.9006G>A | ||
| NM_001371986.1:c.9069G>A MANE Select | NP_001358915.1:p.Gln3023= | |
| NM_182587.4:c.8856G>A | NP_872393.3:p.Gln2952= | |
| NM_032504.2:c.8871G>A | NP_115893.1:p.Gln2957= |