Linked Data
ClinVar Variation Id:
214588
ClinVar RCV Id:
RCV000199092
dbSNP Id:
rs863224050
gnomAD v4:
2-43948127-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43948127T>C , CM000664.2:g.43948127T>C | GRCh38 |
| NC_000002.11:g.44175266T>C , CM000664.1:g.44175266T>C | GRCh37 |
| NC_000002.10:g.44028770T>C | NCBI36 |
| NG_008247.1:g.52879A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409659.6:c.1915A>G | ENSP00000386562.2:p.Ile639Val | |
| ENST00000447246.2:c.1915A>G | ENSP00000403637.2:p.Ile639Val | |
| ENST00000681959.1:n.1529A>G | ||
| ENST00000681961.1:n.1935A>G | ||
| ENST00000682104.1:c.1789A>G | ENSP00000507716.1:p.Ile597Val | |
| ENST00000682303.1:c.*1787A>G | ENSP00000508325.1:n.*1787A>G | |
| ENST00000682308.1:c.1915A>G | ENSP00000507056.1:p.Ile639Val | |
| ENST00000682480.1:c.1915A>G | ENSP00000508344.1:p.Ile639Val | |
| ENST00000682546.1:c.1912A>G | ENSP00000508188.1:p.Ile638Val | |
| ENST00000682585.1:c.1915A>G | ENSP00000506885.1:p.Ile639Val | |
| ENST00000682595.1:n.2497A>G | ||
| ENST00000682607.1:c.333A>G | ||
| ENST00000682779.1:c.1906A>G | ENSP00000507947.1:p.Ile636Val | |
| ENST00000682885.1:c.1915A>G | ENSP00000508036.1:p.Ile639Val | |
| ENST00000682933.1:n.1989A>G | ||
| ENST00000683072.1:n.2497A>G | ||
| ENST00000683082.1:n.1933A>G | ||
| ENST00000683125.1:c.1915A>G | ENSP00000507939.1:p.Ile639Val | |
| ENST00000683213.1:c.1918A>G | ENSP00000507751.1:p.Ile640Val | |
| ENST00000683220.1:c.1945A>G | ENSP00000507151.1:p.Ile649Val | |
| ENST00000683329.1:n.2718A>G | ||
| ENST00000683346.1:c.*1790A>G | ENSP00000507458.1:n.*1790A>G | |
| ENST00000683459.1:n.2502A>G | ||
| ENST00000683590.1:c.1915A>G | ENSP00000506820.1:p.Ile639Val | |
| ENST00000683623.1:c.1915A>G | ENSP00000507702.1:p.Ile639Val | |
| ENST00000683645.1:n.2466A>G | ||
| ENST00000683694.1:n.666A>G | ||
| ENST00000683796.1:c.*1787A>G | ENSP00000508221.1:n.*1787A>G | |
| ENST00000683802.1:n.4840A>G | ||
| ENST00000683833.1:c.1906A>G | ENSP00000506852.1:p.Ile636Val | |
| ENST00000683934.1:c.1801A>G | ||
| ENST00000683989.1:c.1915A>G | ENSP00000507510.1:p.Ile639Val | |
| ENST00000683994.1:c.1915A>G | ENSP00000507181.1:p.Ile639Val | |
| ENST00000684290.1:c.1915A>G | ENSP00000507243.1:p.Ile639Val | |
| ENST00000684306.1:c.*1828A>G | ENSP00000508384.1:n.*1828A>G | |
| ENST00000684341.1:n.1935A>G | ||
| ENST00000684383.1:c.*1553A>G | ENSP00000506863.1:n.*1553A>G | |
| ENST00000684482.1:c.4384A>G | ||
| ENST00000684619.1:c.*1787A>G | ENSP00000508088.1:n.*1787A>G | |
| ENST00000684743.1:n.2946A>G | ||
| ENST00000260665.12:c.1915A>G MANE Select | ENSP00000260665.7:p.Ile639Val | |
| ENST00000260665.11:c.1915A>G | ENSP00000260665.7:p.Ile639Val | |
| NM_133259.3:c.1915A>G | NP_573566.2:p.Ile639Val | |
| XM_006711915.2:c.1837A>G | XP_006711978.1:p.Ile613Val | |
| XM_006711916.2:c.1915A>G | XP_006711979.1:p.Ile639Val | |
| XM_011532473.1:c.1915A>G | XP_011530775.1:p.Ile639Val | |
| XM_011532474.1:c.1915A>G | XP_011530776.1:p.Ile639Val | |
| XM_006711916.3:c.1915A>G | XP_006711979.1:p.Ile639Val | |
| XM_017003117.1:c.1837A>G | XP_016858606.1:p.Ile613Val | |
| XR_002958896.1:n.1957A>G | ||
| NM_133259.4:c.1915A>G MANE Select | NP_573566.2:p.Ile639Val |