Linked Data
dbSNP Id:
rs769282403
ExAC:
2:44126414 A / G
gnomAD v2:
2-44126414-A-G
gnomAD v4:
2-43899275-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43899275A>G , CM000664.2:g.43899275A>G | GRCh38 |
| NC_000002.11:g.44126414A>G , CM000664.1:g.44126414A>G | GRCh37 |
| NC_000002.10:g.43979918A>G | NCBI36 |
| NG_008247.1:g.101731T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419884.6:c.200T>C | ||
| ENST00000472420.6:n.848T>C | ||
| ENST00000483489.2:n.200T>C | ||
| ENST00000681993.1:n.1321T>C | ||
| ENST00000682303.1:c.*3555T>C | ENSP00000508325.1:n.*3555T>C | |
| ENST00000682308.1:c.3769T>C | ENSP00000507056.1:p.Phe1257Leu | |
| ENST00000682434.1:n.1320T>C | ||
| ENST00000682480.1:c.3787T>C | ENSP00000508344.1:p.Phe1263Leu | |
| ENST00000682546.1:c.3766T>C | ENSP00000508188.1:p.Phe1256Leu | |
| ENST00000682585.1:c.3769T>C | ENSP00000506885.1:p.Phe1257Leu | |
| ENST00000682595.1:n.4353T>C | ||
| ENST00000682607.1:c.2187T>C | ||
| ENST00000682612.1:c.621T>C | ||
| ENST00000682779.1:c.3760T>C | ENSP00000507947.1:p.Phe1254Leu | |
| ENST00000682845.1:n.2871T>C | ||
| ENST00000682885.1:c.3724T>C | ENSP00000508036.1:p.Phe1242Leu | |
| ENST00000682933.1:n.3843T>C | ||
| ENST00000683002.1:c.621T>C | ||
| ENST00000683072.1:n.4353T>C | ||
| ENST00000683080.1:n.1388T>C | ||
| ENST00000683125.1:c.3877T>C | ENSP00000507939.1:p.Phe1293Leu | |
| ENST00000683213.1:c.3772T>C | ENSP00000507751.1:p.Phe1258Leu | |
| ENST00000683220.1:c.3799T>C | ENSP00000507151.1:p.Phe1267Leu | |
| ENST00000683329.1:n.4572T>C | ||
| ENST00000683346.1:c.*3644T>C | ENSP00000507458.1:n.*3644T>C | |
| ENST00000683409.1:n.2376T>C | ||
| ENST00000683459.1:n.4356T>C | ||
| ENST00000683528.1:c.697T>C | ||
| ENST00000683590.1:c.3517T>C | ENSP00000506820.1:p.Phe1173Leu | |
| ENST00000683623.1:c.3676T>C | ENSP00000507702.1:p.Phe1226Leu | |
| ENST00000683645.1:n.4320T>C | ||
| ENST00000683796.1:c.*3641T>C | ENSP00000508221.1:n.*3641T>C | |
| ENST00000683802.1:n.6694T>C | ||
| ENST00000683833.1:c.3760T>C | ENSP00000506852.1:p.Phe1254Leu | |
| ENST00000683994.1:c.3769T>C | ENSP00000507181.1:p.Phe1257Leu | |
| ENST00000684290.1:c.*1305T>C | ENSP00000507243.1:n.*1305T>C | |
| ENST00000684306.1:c.*3682T>C | ENSP00000508384.1:n.*3682T>C | |
| ENST00000684341.1:n.3789T>C | ||
| ENST00000684383.1:c.*3407T>C | ENSP00000506863.1:n.*3407T>C | |
| ENST00000684418.1:n.4950T>C | ||
| ENST00000684433.1:n.153T>C | ||
| ENST00000684454.1:n.3119T>C | ||
| ENST00000684619.1:c.*3641T>C | ENSP00000508088.1:n.*3641T>C | |
| ENST00000684743.1:n.6514T>C | ||
| ENST00000260665.12:c.3769T>C MANE Select | ENSP00000260665.7:p.Phe1257Leu | |
| ENST00000260665.11:c.3769T>C | ENSP00000260665.7:p.Phe1257Leu | |
| ENST00000419884.5:c.10T>C | ENSP00000414207.1:p.Phe4Leu | |
| ENST00000463456.5:n.2812T>C | ||
| ENST00000472420.5:n.166T>C | ||
| ENST00000483489.1:n.243T>C | ||
| NM_133259.3:c.3769T>C | NP_573566.2:p.Phe1257Leu | |
| XM_006711915.2:c.3691T>C | XP_006711978.1:p.Phe1231Leu | |
| XM_011532473.1:c.3769T>C | XP_011530775.1:p.Phe1257Leu | |
| XM_011532474.1:c.3769T>C | XP_011530776.1:p.Phe1257Leu | |
| XM_017003117.1:c.3691T>C | XP_016858606.1:p.Phe1231Leu | |
| XR_002958896.1:n.3811T>C | ||
| NM_133259.4:c.3769T>C MANE Select | NP_573566.2:p.Phe1257Leu |