Linked Data
dbSNP Id:
rs758298316
ExAC:
2:44132848 C / A
gnomAD v2:
2-44132848-C-A
gnomAD v3:
2-43905709-C-A
gnomAD v4:
2-43905709-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43905709C>A , CM000664.2:g.43905709C>A | GRCh38 |
| NC_000002.11:g.44132848C>A , CM000664.1:g.44132848C>A | GRCh37 |
| NC_000002.10:g.43986352C>A | NCBI36 |
| NG_008247.1:g.95297G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472420.6:n.426G>T | ||
| ENST00000681993.1:n.899G>T | ||
| ENST00000682295.1:c.502G>T | ENSP00000507499.1:n.502G>T | |
| ENST00000682303.1:c.*3133G>T | ENSP00000508325.1:n.*3133G>T | |
| ENST00000682308.1:c.3347G>T | ENSP00000507056.1:p.Arg1116Met | |
| ENST00000682480.1:c.3365G>T | ENSP00000508344.1:p.Arg1122Met | |
| ENST00000682546.1:c.3344G>T | ENSP00000508188.1:p.Arg1115Met | |
| ENST00000682585.1:c.3347G>T | ENSP00000506885.1:p.Arg1116Met | |
| ENST00000682595.1:n.3931G>T | ||
| ENST00000682607.1:c.1765G>T | ||
| ENST00000682612.1:c.199G>T | ||
| ENST00000682779.1:c.3338G>T | ENSP00000507947.1:p.Arg1113Met | |
| ENST00000682845.1:n.2449G>T | ||
| ENST00000682885.1:c.3302G>T | ENSP00000508036.1:p.Arg1101Met | |
| ENST00000682933.1:n.3421G>T | ||
| ENST00000683002.1:c.199G>T | ||
| ENST00000683072.1:n.3931G>T | ||
| ENST00000683080.1:n.966G>T | ||
| ENST00000683125.1:c.3455G>T | ENSP00000507939.1:p.Arg1152Met | |
| ENST00000683213.1:c.3350G>T | ENSP00000507751.1:p.Arg1117Met | |
| ENST00000683220.1:c.3377G>T | ENSP00000507151.1:p.Arg1126Met | |
| ENST00000683329.1:n.4150G>T | ||
| ENST00000683346.1:c.*3222G>T | ENSP00000507458.1:n.*3222G>T | |
| ENST00000683409.1:n.1954G>T | ||
| ENST00000683459.1:n.3934G>T | ||
| ENST00000683528.1:c.199G>T | ||
| ENST00000683590.1:c.3095G>T | ENSP00000506820.1:p.Arg1032Met | |
| ENST00000683623.1:c.3254G>T | ENSP00000507702.1:p.Arg1085Met | |
| ENST00000683645.1:n.3898G>T | ||
| ENST00000683796.1:c.*3219G>T | ENSP00000508221.1:n.*3219G>T | |
| ENST00000683802.1:n.6272G>T | ||
| ENST00000683833.1:c.3338G>T | ENSP00000506852.1:p.Arg1113Met | |
| ENST00000683994.1:c.3347G>T | ENSP00000507181.1:p.Arg1116Met | |
| ENST00000684290.1:c.*883G>T | ENSP00000507243.1:n.*883G>T | |
| ENST00000684306.1:c.*3260G>T | ENSP00000508384.1:n.*3260G>T | |
| ENST00000684341.1:n.3367G>T | ||
| ENST00000684383.1:c.*2985G>T | ENSP00000506863.1:n.*2985G>T | |
| ENST00000684418.1:n.4528G>T | ||
| ENST00000684454.1:n.2697G>T | ||
| ENST00000684619.1:c.*3219G>T | ENSP00000508088.1:n.*3219G>T | |
| ENST00000684743.1:n.4378G>T | ||
| ENST00000260665.12:c.3347G>T MANE Select | ENSP00000260665.7:p.Arg1116Met | |
| ENST00000260665.11:c.3347G>T | ENSP00000260665.7:p.Arg1116Met | |
| NM_133259.3:c.3347G>T | NP_573566.2:p.Arg1116Met | |
| XM_006711915.2:c.3269G>T | XP_006711978.1:p.Arg1090Met | |
| XM_011532473.1:c.3347G>T | XP_011530775.1:p.Arg1116Met | |
| XM_011532474.1:c.3347G>T | XP_011530776.1:p.Arg1116Met | |
| XM_017003117.1:c.3269G>T | XP_016858606.1:p.Arg1090Met | |
| XR_002958896.1:n.3389G>T | ||
| NM_133259.4:c.3347G>T MANE Select | NP_573566.2:p.Arg1116Met |