Linked Data
ClinVar Variation Id:
748280
ClinVar RCV Id:
RCV000925062
dbSNP Id:
rs1266873061
gnomAD v2:
2-44126412-A-G
gnomAD v3:
2-43899273-A-G
gnomAD v4:
2-43899273-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43899273A>G , CM000664.2:g.43899273A>G | GRCh38 |
| NC_000002.11:g.44126412A>G , CM000664.1:g.44126412A>G | GRCh37 |
| NC_000002.10:g.43979916A>G | NCBI36 |
| NG_008247.1:g.101733T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419884.6:c.202T>C | ||
| ENST00000472420.6:n.850T>C | ||
| ENST00000483489.2:n.202T>C | ||
| ENST00000681993.1:n.1323T>C | ||
| ENST00000682303.1:c.*3557T>C | ENSP00000508325.1:n.*3557T>C | |
| ENST00000682308.1:c.3771T>C | ENSP00000507056.1:p.Phe1257= | |
| ENST00000682434.1:n.1322T>C | ||
| ENST00000682480.1:c.3789T>C | ENSP00000508344.1:p.Phe1263= | |
| ENST00000682546.1:c.3768T>C | ENSP00000508188.1:p.Phe1256= | |
| ENST00000682585.1:c.3771T>C | ENSP00000506885.1:p.Phe1257= | |
| ENST00000682595.1:n.4355T>C | ||
| ENST00000682607.1:c.2189T>C | ||
| ENST00000682612.1:c.623T>C | ||
| ENST00000682779.1:c.3762T>C | ENSP00000507947.1:p.Phe1254= | |
| ENST00000682845.1:n.2873T>C | ||
| ENST00000682885.1:c.3726T>C | ENSP00000508036.1:p.Phe1242= | |
| ENST00000682933.1:n.3845T>C | ||
| ENST00000683002.1:c.623T>C | ||
| ENST00000683072.1:n.4355T>C | ||
| ENST00000683080.1:n.1390T>C | ||
| ENST00000683125.1:c.3879T>C | ENSP00000507939.1:p.Phe1293= | |
| ENST00000683213.1:c.3774T>C | ENSP00000507751.1:p.Phe1258= | |
| ENST00000683220.1:c.3801T>C | ENSP00000507151.1:p.Phe1267= | |
| ENST00000683329.1:n.4574T>C | ||
| ENST00000683346.1:c.*3646T>C | ENSP00000507458.1:n.*3646T>C | |
| ENST00000683409.1:n.2378T>C | ||
| ENST00000683459.1:n.4358T>C | ||
| ENST00000683528.1:c.699T>C | ||
| ENST00000683590.1:c.3519T>C | ENSP00000506820.1:p.Phe1173= | |
| ENST00000683623.1:c.3678T>C | ENSP00000507702.1:p.Phe1226= | |
| ENST00000683645.1:n.4322T>C | ||
| ENST00000683796.1:c.*3643T>C | ENSP00000508221.1:n.*3643T>C | |
| ENST00000683802.1:n.6696T>C | ||
| ENST00000683833.1:c.3762T>C | ENSP00000506852.1:p.Phe1254= | |
| ENST00000683994.1:c.3771T>C | ENSP00000507181.1:p.Phe1257= | |
| ENST00000684290.1:c.*1307T>C | ENSP00000507243.1:n.*1307T>C | |
| ENST00000684306.1:c.*3684T>C | ENSP00000508384.1:n.*3684T>C | |
| ENST00000684341.1:n.3791T>C | ||
| ENST00000684383.1:c.*3409T>C | ENSP00000506863.1:n.*3409T>C | |
| ENST00000684418.1:n.4952T>C | ||
| ENST00000684433.1:n.155T>C | ||
| ENST00000684454.1:n.3121T>C | ||
| ENST00000684619.1:c.*3643T>C | ENSP00000508088.1:n.*3643T>C | |
| ENST00000684743.1:n.6516T>C | ||
| ENST00000260665.12:c.3771T>C MANE Select | ENSP00000260665.7:p.Phe1257= | |
| ENST00000260665.11:c.3771T>C | ENSP00000260665.7:p.Phe1257= | |
| ENST00000419884.5:c.12T>C | ENSP00000414207.1:p.Phe4= | |
| ENST00000463456.5:n.2814T>C | ||
| ENST00000472420.5:n.168T>C | ||
| ENST00000483489.1:n.245T>C | ||
| NM_133259.3:c.3771T>C | NP_573566.2:p.Phe1257= | |
| XM_006711915.2:c.3693T>C | XP_006711978.1:p.Phe1231= | |
| XM_011532473.1:c.3771T>C | XP_011530775.1:p.Phe1257= | |
| XM_011532474.1:c.3771T>C | XP_011530776.1:p.Phe1257= | |
| XM_017003117.1:c.3693T>C | XP_016858606.1:p.Phe1231= | |
| XR_002958896.1:n.3813T>C | ||
| NM_133259.4:c.3771T>C MANE Select | NP_573566.2:p.Phe1257= |