Linked Data
dbSNP Id:
rs1369944064
gnomAD v2:
2-44132833-T-A
gnomAD v3:
2-43905694-T-A
gnomAD v4:
2-43905694-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43905694T>A , CM000664.2:g.43905694T>A | GRCh38 |
| NC_000002.11:g.44132833T>A , CM000664.1:g.44132833T>A | GRCh37 |
| NC_000002.10:g.43986337T>A | NCBI36 |
| NG_008247.1:g.95312A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472420.6:n.441A>T | ||
| ENST00000681993.1:n.914A>T | ||
| ENST00000682295.1:c.517A>T | ENSP00000507499.1:n.517A>T | |
| ENST00000682303.1:c.*3148A>T | ENSP00000508325.1:n.*3148A>T | |
| ENST00000682308.1:c.3362A>T | ENSP00000507056.1:p.Lys1121Ile | |
| ENST00000682480.1:c.3380A>T | ENSP00000508344.1:p.Lys1127Ile | |
| ENST00000682546.1:c.3359A>T | ENSP00000508188.1:p.Lys1120Ile | |
| ENST00000682585.1:c.3362A>T | ENSP00000506885.1:p.Lys1121Ile | |
| ENST00000682595.1:n.3946A>T | ||
| ENST00000682607.1:c.1780A>T | ||
| ENST00000682612.1:c.214A>T | ||
| ENST00000682779.1:c.3353A>T | ENSP00000507947.1:p.Lys1118Ile | |
| ENST00000682845.1:n.2464A>T | ||
| ENST00000682885.1:c.3317A>T | ENSP00000508036.1:p.Lys1106Ile | |
| ENST00000682933.1:n.3436A>T | ||
| ENST00000683002.1:c.214A>T | ||
| ENST00000683072.1:n.3946A>T | ||
| ENST00000683080.1:n.981A>T | ||
| ENST00000683125.1:c.3470A>T | ENSP00000507939.1:p.Lys1157Ile | |
| ENST00000683213.1:c.3365A>T | ENSP00000507751.1:p.Lys1122Ile | |
| ENST00000683220.1:c.3392A>T | ENSP00000507151.1:p.Lys1131Ile | |
| ENST00000683329.1:n.4165A>T | ||
| ENST00000683346.1:c.*3237A>T | ENSP00000507458.1:n.*3237A>T | |
| ENST00000683409.1:n.1969A>T | ||
| ENST00000683459.1:n.3949A>T | ||
| ENST00000683528.1:c.214A>T | ||
| ENST00000683590.1:c.3110A>T | ENSP00000506820.1:p.Lys1037Ile | |
| ENST00000683623.1:c.3269A>T | ENSP00000507702.1:p.Lys1090Ile | |
| ENST00000683645.1:n.3913A>T | ||
| ENST00000683796.1:c.*3234A>T | ENSP00000508221.1:n.*3234A>T | |
| ENST00000683802.1:n.6287A>T | ||
| ENST00000683833.1:c.3353A>T | ENSP00000506852.1:p.Lys1118Ile | |
| ENST00000683994.1:c.3362A>T | ENSP00000507181.1:p.Lys1121Ile | |
| ENST00000684290.1:c.*898A>T | ENSP00000507243.1:n.*898A>T | |
| ENST00000684306.1:c.*3275A>T | ENSP00000508384.1:n.*3275A>T | |
| ENST00000684341.1:n.3382A>T | ||
| ENST00000684383.1:c.*3000A>T | ENSP00000506863.1:n.*3000A>T | |
| ENST00000684418.1:n.4543A>T | ||
| ENST00000684454.1:n.2712A>T | ||
| ENST00000684619.1:c.*3234A>T | ENSP00000508088.1:n.*3234A>T | |
| ENST00000684743.1:n.4393A>T | ||
| ENST00000260665.12:c.3362A>T MANE Select | ENSP00000260665.7:p.Lys1121Ile | |
| ENST00000260665.11:c.3362A>T | ENSP00000260665.7:p.Lys1121Ile | |
| NM_133259.3:c.3362A>T | NP_573566.2:p.Lys1121Ile | |
| XM_006711915.2:c.3284A>T | XP_006711978.1:p.Lys1095Ile | |
| XM_011532473.1:c.3362A>T | XP_011530775.1:p.Lys1121Ile | |
| XM_011532474.1:c.3362A>T | XP_011530776.1:p.Lys1121Ile | |
| XM_017003117.1:c.3284A>T | XP_016858606.1:p.Lys1095Ile | |
| XR_002958896.1:n.3404A>T | ||
| NM_133259.4:c.3362A>T MANE Select | NP_573566.2:p.Lys1121Ile |