Linked Data
ClinVar Variation Id:
1331340
dbSNP Id:
rs1229301675
gnomAD v3:
2-43948196-C-T
gnomAD v4:
2-43948196-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43948196C>T , CM000664.2:g.43948196C>T | GRCh38 |
| NC_000002.11:g.44175335C>T , CM000664.1:g.44175335C>T | GRCh37 |
| NC_000002.10:g.44028839C>T | NCBI36 |
| NG_008247.1:g.52810G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409659.6:c.1846G>A | ENSP00000386562.2:p.Val616Ile | |
| ENST00000447246.2:c.1846G>A | ENSP00000403637.2:p.Val616Ile | |
| ENST00000467058.2:n.575G>A | ||
| ENST00000681959.1:n.1460G>A | ||
| ENST00000681961.1:n.1866G>A | ||
| ENST00000682104.1:c.1720G>A | ENSP00000507716.1:p.Val574Ile | |
| ENST00000682303.1:c.*1718G>A | ENSP00000508325.1:n.*1718G>A | |
| ENST00000682308.1:c.1846G>A | ENSP00000507056.1:p.Val616Ile | |
| ENST00000682480.1:c.1846G>A | ENSP00000508344.1:p.Val616Ile | |
| ENST00000682546.1:c.1843G>A | ENSP00000508188.1:p.Val615Ile | |
| ENST00000682585.1:c.1846G>A | ENSP00000506885.1:p.Val616Ile | |
| ENST00000682595.1:n.2428G>A | ||
| ENST00000682607.1:c.264G>A | ||
| ENST00000682779.1:c.1837G>A | ENSP00000507947.1:p.Val613Ile | |
| ENST00000682885.1:c.1846G>A | ENSP00000508036.1:p.Val616Ile | |
| ENST00000682933.1:n.1920G>A | ||
| ENST00000683072.1:n.2428G>A | ||
| ENST00000683082.1:n.1864G>A | ||
| ENST00000683125.1:c.1846G>A | ENSP00000507939.1:p.Val616Ile | |
| ENST00000683213.1:c.1849G>A | ENSP00000507751.1:p.Val617Ile | |
| ENST00000683220.1:c.1876G>A | ENSP00000507151.1:p.Val626Ile | |
| ENST00000683329.1:n.2649G>A | ||
| ENST00000683346.1:c.*1721G>A | ENSP00000507458.1:n.*1721G>A | |
| ENST00000683459.1:n.2433G>A | ||
| ENST00000683590.1:c.1846G>A | ENSP00000506820.1:p.Val616Ile | |
| ENST00000683623.1:c.1846G>A | ENSP00000507702.1:p.Val616Ile | |
| ENST00000683645.1:n.2397G>A | ||
| ENST00000683694.1:n.597G>A | ||
| ENST00000683796.1:c.*1718G>A | ENSP00000508221.1:n.*1718G>A | |
| ENST00000683802.1:n.4771G>A | ||
| ENST00000683833.1:c.1837G>A | ENSP00000506852.1:p.Val613Ile | |
| ENST00000683934.1:c.1732G>A | ||
| ENST00000683989.1:c.1846G>A | ENSP00000507510.1:p.Val616Ile | |
| ENST00000683994.1:c.1846G>A | ENSP00000507181.1:p.Val616Ile | |
| ENST00000684290.1:c.1846G>A | ENSP00000507243.1:p.Val616Ile | |
| ENST00000684306.1:c.*1759G>A | ENSP00000508384.1:n.*1759G>A | |
| ENST00000684341.1:n.1866G>A | ||
| ENST00000684383.1:c.*1484G>A | ENSP00000506863.1:n.*1484G>A | |
| ENST00000684482.1:c.4315G>A | ||
| ENST00000684619.1:c.*1718G>A | ENSP00000508088.1:n.*1718G>A | |
| ENST00000684743.1:n.2877G>A | ||
| ENST00000260665.12:c.1846G>A MANE Select | ENSP00000260665.7:p.Val616Ile | |
| ENST00000260665.11:c.1846G>A | ENSP00000260665.7:p.Val616Ile | |
| NM_133259.3:c.1846G>A | NP_573566.2:p.Val616Ile | |
| XM_006711915.2:c.1768G>A | XP_006711978.1:p.Val590Ile | |
| XM_006711916.2:c.1846G>A | XP_006711979.1:p.Val616Ile | |
| XM_011532473.1:c.1846G>A | XP_011530775.1:p.Val616Ile | |
| XM_011532474.1:c.1846G>A | XP_011530776.1:p.Val616Ile | |
| XM_006711916.3:c.1846G>A | XP_006711979.1:p.Val616Ile | |
| XM_017003117.1:c.1768G>A | XP_016858606.1:p.Val590Ile | |
| XR_002958896.1:n.1888G>A | ||
| NM_133259.4:c.1846G>A MANE Select | NP_573566.2:p.Val616Ile |