Linked Data
dbSNP Id:
rs1671541218
gnomAD v3:
2-43918054-A-G
gnomAD v4:
2-43918054-A-G
COSMIC:
COSM4989497
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918054A>G , CM000664.2:g.43918054A>G | GRCh38 |
| NC_000002.11:g.44145193A>G , CM000664.1:g.44145193A>G | GRCh37 |
| NC_000002.10:g.43998697A>G | NCBI36 |
| NG_008247.1:g.82952T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681993.1:n.671T>C | ||
| ENST00000682295.1:c.303+202T>C | ENSP00000507499.1:n.303+202T>C | |
| ENST00000682303.1:c.*2905T>C | ENSP00000508325.1:n.*2905T>C | |
| ENST00000682308.1:c.3119T>C | ENSP00000507056.1:p.Leu1040Ser | |
| ENST00000682480.1:c.3137T>C | ENSP00000508344.1:p.Leu1046Ser | |
| ENST00000682546.1:c.3116T>C | ENSP00000508188.1:p.Leu1039Ser | |
| ENST00000682585.1:c.3119T>C | ENSP00000506885.1:p.Leu1040Ser | |
| ENST00000682595.1:n.3703T>C | ||
| ENST00000682607.1:c.1537T>C | ||
| ENST00000682779.1:c.3110T>C | ENSP00000507947.1:p.Leu1037Ser | |
| ENST00000682845.1:n.2221T>C | ||
| ENST00000682885.1:c.3074T>C | ENSP00000508036.1:p.Leu1025Ser | |
| ENST00000682933.1:n.3193T>C | ||
| ENST00000683072.1:n.3703T>C | ||
| ENST00000683080.1:n.738T>C | ||
| ENST00000683125.1:c.3227T>C | ENSP00000507939.1:p.Leu1076Ser | |
| ENST00000683213.1:c.3122T>C | ENSP00000507751.1:p.Leu1041Ser | |
| ENST00000683220.1:c.3149T>C | ENSP00000507151.1:p.Leu1050Ser | |
| ENST00000683329.1:n.3922T>C | ||
| ENST00000683346.1:c.*2994T>C | ENSP00000507458.1:n.*2994T>C | |
| ENST00000683409.1:n.1726T>C | ||
| ENST00000683459.1:n.3706T>C | ||
| ENST00000683590.1:c.2897-5496T>C | ENSP00000506820.1:n.2897-5496T>C | |
| ENST00000683623.1:c.3026T>C | ENSP00000507702.1:p.Leu1009Ser | |
| ENST00000683645.1:n.3670T>C | ||
| ENST00000683796.1:c.*2991T>C | ENSP00000508221.1:n.*2991T>C | |
| ENST00000683802.1:n.6044T>C | ||
| ENST00000683833.1:c.3110T>C | ENSP00000506852.1:p.Leu1037Ser | |
| ENST00000683994.1:c.3119T>C | ENSP00000507181.1:p.Leu1040Ser | |
| ENST00000684290.1:c.*655T>C | ENSP00000507243.1:n.*655T>C | |
| ENST00000684306.1:c.*3032T>C | ENSP00000508384.1:n.*3032T>C | |
| ENST00000684341.1:n.3139T>C | ||
| ENST00000684383.1:c.*2757T>C | ENSP00000506863.1:n.*2757T>C | |
| ENST00000684619.1:c.*2991T>C | ENSP00000508088.1:n.*2991T>C | |
| ENST00000684705.1:n.240T>C | ||
| ENST00000684743.1:n.4150T>C | ||
| ENST00000260665.12:c.3119T>C MANE Select | ENSP00000260665.7:p.Leu1040Ser | |
| ENST00000260665.11:c.3119T>C | ENSP00000260665.7:p.Leu1040Ser | |
| NM_133259.3:c.3119T>C | NP_573566.2:p.Leu1040Ser | |
| XM_006711915.2:c.3041T>C | XP_006711978.1:p.Leu1014Ser | |
| XM_006711916.2:c.3119T>C | XP_006711979.1:p.Leu1040Ser | |
| XM_011532473.1:c.3119T>C | XP_011530775.1:p.Leu1040Ser | |
| XM_011532474.1:c.3119T>C | XP_011530776.1:p.Leu1040Ser | |
| XM_006711916.3:c.3119T>C | XP_006711979.1:p.Leu1040Ser | |
| XM_017003117.1:c.3041T>C | XP_016858606.1:p.Leu1014Ser | |
| XR_002958896.1:n.3161T>C | ||
| NM_133259.4:c.3119T>C MANE Select | NP_573566.2:p.Leu1040Ser |