Linked Data
dbSNP Id:
rs772814684
ExAC:
2:44132890 A / G
gnomAD v2:
2-44132890-A-G
gnomAD v4:
2-43905751-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43905751A>G , CM000664.2:g.43905751A>G | GRCh38 |
| NC_000002.11:g.44132890A>G , CM000664.1:g.44132890A>G | GRCh37 |
| NC_000002.10:g.43986394A>G | NCBI36 |
| NG_008247.1:g.95255T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472420.6:n.384T>C | ||
| ENST00000681993.1:n.857T>C | ||
| ENST00000682295.1:c.460T>C | ENSP00000507499.1:n.460T>C | |
| ENST00000682303.1:c.*3091T>C | ENSP00000508325.1:n.*3091T>C | |
| ENST00000682308.1:c.3305T>C | ENSP00000507056.1:p.Leu1102Pro | |
| ENST00000682480.1:c.3323T>C | ENSP00000508344.1:p.Leu1108Pro | |
| ENST00000682546.1:c.3302T>C | ENSP00000508188.1:p.Leu1101Pro | |
| ENST00000682585.1:c.3305T>C | ENSP00000506885.1:p.Leu1102Pro | |
| ENST00000682595.1:n.3889T>C | ||
| ENST00000682607.1:c.1723T>C | ||
| ENST00000682612.1:c.157T>C | ||
| ENST00000682779.1:c.3296T>C | ENSP00000507947.1:p.Leu1099Pro | |
| ENST00000682845.1:n.2407T>C | ||
| ENST00000682885.1:c.3260T>C | ENSP00000508036.1:p.Leu1087Pro | |
| ENST00000682933.1:n.3379T>C | ||
| ENST00000683002.1:c.157T>C | ||
| ENST00000683072.1:n.3889T>C | ||
| ENST00000683080.1:n.924T>C | ||
| ENST00000683125.1:c.3413T>C | ENSP00000507939.1:p.Leu1138Pro | |
| ENST00000683213.1:c.3308T>C | ENSP00000507751.1:p.Leu1103Pro | |
| ENST00000683220.1:c.3335T>C | ENSP00000507151.1:p.Leu1112Pro | |
| ENST00000683329.1:n.4108T>C | ||
| ENST00000683346.1:c.*3180T>C | ENSP00000507458.1:n.*3180T>C | |
| ENST00000683409.1:n.1912T>C | ||
| ENST00000683459.1:n.3892T>C | ||
| ENST00000683528.1:c.157T>C | ||
| ENST00000683590.1:c.3053T>C | ENSP00000506820.1:p.Leu1018Pro | |
| ENST00000683623.1:c.3212T>C | ENSP00000507702.1:p.Leu1071Pro | |
| ENST00000683645.1:n.3856T>C | ||
| ENST00000683796.1:c.*3177T>C | ENSP00000508221.1:n.*3177T>C | |
| ENST00000683802.1:n.6230T>C | ||
| ENST00000683833.1:c.3296T>C | ENSP00000506852.1:p.Leu1099Pro | |
| ENST00000683994.1:c.3305T>C | ENSP00000507181.1:p.Leu1102Pro | |
| ENST00000684290.1:c.*841T>C | ENSP00000507243.1:n.*841T>C | |
| ENST00000684306.1:c.*3218T>C | ENSP00000508384.1:n.*3218T>C | |
| ENST00000684341.1:n.3325T>C | ||
| ENST00000684383.1:c.*2943T>C | ENSP00000506863.1:n.*2943T>C | |
| ENST00000684418.1:n.4486T>C | ||
| ENST00000684454.1:n.2655T>C | ||
| ENST00000684619.1:c.*3177T>C | ENSP00000508088.1:n.*3177T>C | |
| ENST00000684743.1:n.4336T>C | ||
| ENST00000260665.12:c.3305T>C MANE Select | ENSP00000260665.7:p.Leu1102Pro | |
| ENST00000260665.11:c.3305T>C | ENSP00000260665.7:p.Leu1102Pro | |
| NM_133259.3:c.3305T>C | NP_573566.2:p.Leu1102Pro | |
| XM_006711915.2:c.3227T>C | XP_006711978.1:p.Leu1076Pro | |
| XM_011532473.1:c.3305T>C | XP_011530775.1:p.Leu1102Pro | |
| XM_011532474.1:c.3305T>C | XP_011530776.1:p.Leu1102Pro | |
| XM_017003117.1:c.3227T>C | XP_016858606.1:p.Leu1076Pro | |
| XR_002958896.1:n.3347T>C | ||
| NM_133259.4:c.3305T>C MANE Select | NP_573566.2:p.Leu1102Pro |