Linked Data
ClinVar Variation Id:
347720
dbSNP Id:
rs548602386
ExAC:
4:149073718 A / G
gnomAD v2:
4-149073718-A-G
gnomAD v3:
4-148152567-A-G
gnomAD v4:
4-148152567-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148152567A>G , CM000666.2:g.148152567A>G | GRCh38 |
| NC_000004.11:g.149073718A>G , CM000666.1:g.149073718A>G | GRCh37 |
| NC_000004.10:g.149293168A>G | NCBI36 |
| NG_013350.1:g.294955T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358102.8:c.2412T>C MANE Select | ENSP00000350815.3:p.Tyr804= | |
| ENST00000342437.8:c.2015-32279T>C | ENSP00000343907.4:n.2015-32279T>C | |
| ENST00000344721.8:c.2412T>C | ENSP00000341390.4:p.Tyr804= | |
| ENST00000358102.7:c.2412T>C | ENSP00000350815.3:p.Tyr804= | |
| ENST00000503174.1:n.341T>C | ||
| ENST00000503313.1:n.609T>C | ||
| ENST00000511528.1:c.2424T>C | ENSP00000421481.1:p.Tyr808= | |
| ENST00000512865.5:c.2061T>C | ENSP00000423510.1:p.Tyr687= | |
| ENST00000625323.2:c.2424T>C | ENSP00000486719.1:p.Tyr808= | |
| NM_000901.4:c.2412T>C | NP_000892.2:p.Tyr804= | |
| NM_001166104.1:c.2061T>C | NP_001159576.1:p.Tyr687= | |
| XM_011531975.1:c.2424T>C | XP_011530277.1:p.Tyr808= | |
| XM_011531976.1:c.2424T>C | XP_011530278.1:p.Tyr808= | |
| XM_011531977.1:c.2424T>C | XP_011530279.1:p.Tyr808= | |
| XM_011531978.1:c.2424T>C | XP_011530280.1:p.Tyr808= | |
| NM_001354819.1:c.2061T>C | NP_001341748.1:p.Tyr687= | |
| NR_148974.1:n.2378-32279T>C | ||
| XM_011531978.2:c.2424T>C | XP_011530280.1:p.Tyr808= | |
| NM_000901.5:c.2412T>C MANE Select | NP_000892.2:p.Tyr804= | |
| NM_001166104.2:c.2061T>C | NP_001159576.1:p.Tyr687= | |
| NR_148974.2:n.2272-32279T>C |