Linked Data
ClinVar Variation Id:
440011
dbSNP Id:
rs3750117
ExAC:
7:33060946 A / G
gnomAD v2:
7-33060946-A-G
gnomAD v3:
7-33021334-A-G
gnomAD v4:
7-33021334-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.33021334A>G , CM000669.2:g.33021334A>G | GRCh38 |
| NC_000007.13:g.33060946A>G , CM000669.1:g.33060946A>G | GRCh37 |
| NC_000007.12:g.33027471A>G | NCBI36 |
| NG_015800.1:g.46464T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409467.6:c.240T>C | ENSP00000387166.1:p.Tyr80= | |
| ENST00000610140.7:c.378T>C MANE Select | ENSP00000476480.2:p.Tyr126= | |
| ENST00000643244.1:c.276T>C | ENSP00000496364.1:p.Tyr92= | |
| ENST00000242210.11:c.393T>C | ENSP00000242210.7:p.Tyr131= | |
| ENST00000381626.6:c.240T>C | ENSP00000371039.2:p.Tyr80= | |
| ENST00000396152.6:c.276T>C | ENSP00000379456.2:p.Tyr92= | |
| ENST00000405342.5:c.276T>C | ENSP00000385261.1:p.Tyr92= | |
| ENST00000409467.5:c.240T>C | ENSP00000387166.1:p.Tyr80= | |
| ENST00000409787.4:c.276T>C | ENSP00000387205.1:p.Tyr92= | |
| ENST00000456458.5:c.*283T>C | ENSP00000389676.2:n.*283T>C | |
| ENST00000610140.5:c.378T>C | ENSP00000476480.1:p.Tyr126= | |
| ENST00000620705.4:c.393T>C | ENSP00000484415.1:p.Tyr131= | |
| NM_001002009.2:c.276T>C | NP_001002009.1:p.Tyr92= | |
| NM_001002010.2:c.393T>C | NP_001002010.1:p.Tyr131= | |
| NM_001166118.2:c.240T>C | NP_001159590.1:p.Tyr80= | |
| NM_016489.12:c.276T>C | NP_057573.2:p.Tyr92= | |
| XM_011515409.1:c.240T>C | XP_011513711.1:p.Tyr80= | |
| NM_001002010.3:c.378T>C | NP_001002010.2:p.Tyr126= | |
| NM_001356996.1:c.240T>C | NP_001343925.1:p.Tyr80= | |
| NM_001002009.3:c.276T>C | NP_001002009.1:p.Tyr92= | |
| NM_001002010.5:c.378T>C MANE Select | NP_001002010.2:p.Tyr126= | |
| NM_001166118.3:c.240T>C | NP_001159590.1:p.Tyr80= | |
| NM_001356996.2:c.240T>C | NP_001343925.1:p.Tyr80= | |
| NM_001374335.1:c.279T>C | NP_001361264.1:p.Tyr93= | |
| NM_001374336.1:c.240T>C | NP_001361265.1:p.Tyr80= | |
| NM_001374337.1:c.240T>C | NP_001361266.1:p.Tyr80= | |
| NM_001374338.1:c.378T>C | NP_001361267.1:p.Tyr126= | |
| NM_001374339.1:c.177T>C | NP_001361268.1:p.Tyr59= | |
| NM_016489.13:c.276T>C | NP_057573.2:p.Tyr92= | |
| NM_001356996.3:c.240T>C | NP_001343925.1:p.Tyr80= | |
| NM_016489.14:c.276T>C | NP_057573.2:p.Tyr92= |