Linked Data
ClinVar Variation Id:
306664
dbSNP Id:
rs146042595
ExAC:
12:1017830 G / A
gnomAD v2:
12-1017830-G-A
gnomAD v3:
12-908664-G-A
gnomAD v4:
12-908664-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.908664G>A , CM000674.2:g.908664G>A | GRCh38 |
| NC_000012.11:g.1017830G>A , CM000674.1:g.1017830G>A | GRCh37 |
| NC_000012.10:g.888091G>A | NCBI36 |
| NG_007984.2:g.160606G>A | |
| NG_007984.3:g.160606G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315939.11:c.7021G>A MANE Select | ENSP00000313059.6:p.Gly2341Ser | |
| ENST00000340908.9:c.7777G>A MANE Plus Clinical | ENSP00000341292.5:p.Gly2593Ser | |
| ENST00000675631.1:c.5800G>A | ENSP00000502415.1:p.Gly1934Ser | |
| ENST00000676347.1:c.4468G>A | ENSP00000501875.1:p.Gly1490Ser | |
| ENST00000315939.10:c.7021G>A | ENSP00000313059.6:p.Gly2341Ser | |
| ENST00000340908.8:c.7777G>A | ENSP00000341292.5:p.Gly2593Ser | |
| ENST00000530271.6:c.8374G>A | ENSP00000433548.3:p.Gly2792Ser | |
| ENST00000535572.5:c.6277G>A | ENSP00000441972.1:p.Gly2093Ser | |
| ENST00000537687.5:c.7801G>A | ENSP00000444465.1:p.Gly2601Ser | |
| ENST00000540885.1:n.505G>A | ||
| NM_001184985.1:c.7801G>A | NP_001171914.1:p.Gly2601Ser | |
| NM_014823.2:c.6277G>A | NP_055638.2:p.Gly2093Ser | |
| NM_018979.3:c.7021G>A | NP_061852.3:p.Gly2341Ser | |
| NM_213655.4:c.7777G>A | NP_998820.3:p.Gly2593Ser | |
| XM_006719003.1:c.7018G>A | XP_006719066.1:p.Gly2340Ser | |
| XM_011520997.1:c.8260G>A | XP_011519299.1:p.Gly2754Ser | |
| XM_011520998.1:c.8257G>A | XP_011519300.1:p.Gly2753Ser | |
| XM_011520999.1:c.8257G>A | XP_011519301.1:p.Gly2753Ser | |
| XM_011521000.1:c.8065G>A | XP_011519302.1:p.Gly2689Ser | |
| XM_011521001.1:c.7981G>A | XP_011519303.1:p.Gly2661Ser | |
| XM_011521002.1:c.7798G>A | XP_011519304.1:p.Gly2600Ser | |
| XM_011521003.1:c.7522G>A | XP_011519305.1:p.Gly2508Ser | |
| XM_011521004.1:c.7519G>A | XP_011519306.1:p.Gly2507Ser | |
| XM_011521005.1:c.7039G>A | XP_011519307.1:p.Gly2347Ser | |
| XM_011521006.1:c.6937G>A | XP_011519308.1:p.Gly2313Ser | |
| XM_011521007.1:c.6934G>A | XP_011519309.1:p.Gly2312Ser | |
| XM_011521008.1:c.6199G>A | XP_011519310.1:p.Gly2067Ser | |
| XM_011521009.1:c.6196G>A | XP_011519311.1:p.Gly2066Ser | |
| XM_006719003.2:c.7018G>A | XP_006719066.1:p.Gly2340Ser | |
| XM_011520997.3:c.8260G>A | XP_011519299.1:p.Gly2754Ser | |
| XM_011520998.2:c.8257G>A | XP_011519300.1:p.Gly2753Ser | |
| XM_011520999.2:c.8257G>A | XP_011519301.1:p.Gly2753Ser | |
| XM_011521000.2:c.8065G>A | XP_011519302.1:p.Gly2689Ser | |
| XM_011521001.2:c.7981G>A | XP_011519303.1:p.Gly2661Ser | |
| XM_011521002.2:c.7798G>A | XP_011519304.1:p.Gly2600Ser | |
| XM_011521003.2:c.7522G>A | XP_011519305.1:p.Gly2508Ser | |
| XM_011521004.2:c.7519G>A | XP_011519306.1:p.Gly2507Ser | |
| XM_011521005.2:c.7039G>A | XP_011519307.1:p.Gly2347Ser | |
| XM_011521006.2:c.6937G>A | XP_011519308.1:p.Gly2313Ser | |
| XM_011521007.2:c.6934G>A | XP_011519309.1:p.Gly2312Ser | |
| XM_011521008.2:c.6199G>A | XP_011519310.1:p.Gly2067Ser | |
| XM_011521009.2:c.6196G>A | XP_011519311.1:p.Gly2066Ser | |
| XM_017019834.1:c.6559G>A | XP_016875323.1:p.Gly2187Ser | |
| XM_017019835.1:c.6478G>A | XP_016875324.1:p.Gly2160Ser | |
| XM_017019836.1:c.6475G>A | XP_016875325.1:p.Gly2159Ser | |
| XM_017019837.1:c.6283G>A | XP_016875326.1:p.Gly2095Ser | |
| XM_017019838.1:c.6280G>A | XP_016875327.1:p.Gly2094Ser | |
| XM_017019839.1:c.6004G>A | XP_016875328.1:p.Gly2002Ser | |
| NM_018979.4:c.7021G>A MANE Select | NP_061852.3:p.Gly2341Ser | |
| NM_014823.3:c.6277G>A | NP_055638.2:p.Gly2093Ser | |
| NM_001184985.2:c.7801G>A | NP_001171914.1:p.Gly2601Ser | |
| NM_213655.5:c.7777G>A MANE Plus Clinical | NP_998820.3:p.Gly2593Ser |