Linked Data
ClinVar Variation Id:
217174
ClinVar RCV Id:
RCV000201119
dbSNP Id:
rs863224977
PubMed:
PMID:16049303
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31169492C>A , CM000685.2:g.31169492C>A | GRCh38 |
| NC_000023.10:g.31187609C>A , CM000685.1:g.31187609C>A | GRCh37 |
| NC_000023.9:g.31097530C>A | NCBI36 |
| NG_012232.1:g.2175118G>T , LRG_199:g.2175118G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.5311G>T | ENSP00000350765.3:p.Glu1771Ter | |
| ENST00000680162.2:c.1195G>T | ENSP00000506634.2:p.Glu399Ter | |
| ENST00000680768.2:c.1261G>T | ENSP00000506359.2:p.Glu421Ter | |
| ENST00000681989.1:n.1302G>T | ||
| ENST00000682207.1:n.624G>T | ||
| ENST00000682238.1:c.2843+9177G>T | ENSP00000508124.1:n.2843+9177G>T | |
| ENST00000682322.1:c.1195G>T | ENSP00000507690.1:p.Glu399Ter | |
| ENST00000682600.1:c.1261G>T | ENSP00000507640.1:p.Glu421Ter | |
| ENST00000682769.1:n.1096G>T | ||
| ENST00000683503.1:n.2319G>T | ||
| ENST00000683509.1:n.1982G>T | ||
| ENST00000683675.1:n.1603G>T | ||
| ENST00000683709.1:n.1983G>T | ||
| ENST00000683957.1:n.3957G>T | ||
| ENST00000683995.1:n.649G>T | ||
| ENST00000684072.1:n.733G>T | ||
| ENST00000684130.1:c.3085G>T | ENSP00000508037.1:p.Glu1029Ter | |
| ENST00000684342.1:n.1548G>T | ||
| ENST00000684350.1:n.2319G>T | ||
| ENST00000343523.7:c.2359G>T | ENSP00000340057.4:p.Glu787Ter | |
| ENST00000357033.9:c.10504G>T MANE Select | ENSP00000354923.3:p.Glu3502Ter | |
| ENST00000619831.5:c.6472G>T | ENSP00000479270.2:p.Glu2158Ter | |
| ENST00000620040.5:c.3085G>T | ENSP00000478150.2:p.Glu1029Ter | |
| ENST00000679437.1:c.166G>T | ENSP00000506629.1:p.Glu56Ter | |
| ENST00000679641.1:c.*225+9177G>T | ENSP00000506135.1:n.*225+9177G>T | |
| ENST00000679706.1:c.180+9177G>T | ||
| ENST00000679850.1:n.5515G>T | ||
| ENST00000680162.1:c.1177G>T | ENSP00000506634.1:p.Glu393Ter | |
| ENST00000680355.1:c.1019+9177G>T | ENSP00000506257.1:n.1019+9177G>T | |
| ENST00000680557.1:c.603+34469G>T | ENSP00000505164.1:n.603+34469G>T | |
| ENST00000680701.1:n.279G>T | ||
| ENST00000680768.1:c.1204G>T | ENSP00000506359.1:p.Glu402Ter | |
| ENST00000680961.1:c.*467G>T | ENSP00000506386.1:n.*467G>T | |
| ENST00000681026.1:c.166G>T | ENSP00000506689.1:p.Glu56Ter | |
| ENST00000681153.1:c.1261G>T | ENSP00000505124.1:p.Glu421Ter | |
| ENST00000343523.6:c.2317G>T | ENSP00000340057.3:p.Glu773Ter | |
| ENST00000357033.8:c.10504G>T | ENSP00000354923.3:p.Glu3502Ter | |
| ENST00000358062.6:c.3553G>T | ENSP00000350765.2:p.Glu1185Ter | |
| ENST00000359836.5:c.3085G>T | ENSP00000352894.1:p.Glu1029Ter | |
| ENST00000361471.8:c.1261G>T | ENSP00000354464.4:p.Glu421Ter | |
| ENST00000378677.6:c.10492G>T | ENSP00000367948.2:p.Glu3498Ter | |
| ENST00000378680.6:c.1019+9177G>T | ENSP00000367951.2:n.1019+9177G>T | |
| ENST00000378702.8:c.1300G>T | ENSP00000367974.4:p.Glu434Ter | |
| ENST00000378707.7:c.3124G>T | ENSP00000367979.3:p.Glu1042Ter | |
| ENST00000378723.7:c.1300G>T | ENSP00000367997.3:p.Glu434Ter | |
| ENST00000474231.5:c.3124G>T | ENSP00000417123.1:p.Glu1042Ter | |
| ENST00000481143.2:n.65G>T | ||
| ENST00000541735.5:c.2843+9177G>T | ENSP00000444119.1:n.2843+9177G>T | |
| ENST00000619831.4:c.10489G>T | ENSP00000479270.1:p.Glu3497Ter | |
| ENST00000620040.4:c.10501G>T | ENSP00000478150.1:p.Glu3501Ter | |
| NM_000109.3:c.10480G>T | NP_000100.2:p.Glu3494Ter | |
| NM_004006.2:c.10504G>T , LRG_199t1:c.10504G>T | NP_003997.1:p.Glu3502Ter | |
| NM_004009.3:c.10492G>T | NP_004000.1:p.Glu3498Ter | |
| NM_004010.3:c.10135G>T | NP_004001.1:p.Glu3379Ter | |
| NM_004011.3:c.6481G>T | NP_004002.2:p.Glu2161Ter | |
| NM_004012.3:c.6472G>T | NP_004003.1:p.Glu2158Ter | |
| NM_004013.2:c.3124G>T | NP_004004.1:p.Glu1042Ter | |
| NM_004014.2:c.2317G>T | NP_004005.1:p.Glu773Ter | |
| NM_004015.2:c.1300G>T | NP_004006.1:p.Glu434Ter | |
| NM_004016.2:c.1300G>T | NP_004007.1:p.Glu434Ter | |
| NM_004017.2:c.1261G>T | NP_004008.1:p.Glu421Ter | |
| NM_004018.2:c.1261G>T | NP_004009.1:p.Glu421Ter | |
| NM_004020.3:c.2843+9177G>T | NP_004011.2:n.2843+9177G>T | |
| NM_004021.2:c.3124G>T | NP_004012.1:p.Glu1042Ter | |
| NM_004022.2:c.3085G>T | NP_004013.1:p.Glu1029Ter | |
| NM_004023.2:c.2843+9177G>T | NP_004014.1:n.2843+9177G>T | |
| XM_006724468.2:c.10504G>T | XP_006724531.1:p.Glu3502Ter | |
| XM_006724469.2:c.10480G>T | XP_006724532.1:p.Glu3494Ter | |
| XM_006724470.2:c.10465G>T | XP_006724533.1:p.Glu3489Ter | |
| XM_006724471.2:c.10399G>T | XP_006724534.1:p.Glu3467Ter | |
| XM_006724472.2:c.10375G>T | XP_006724535.1:p.Glu3459Ter | |
| XM_006724473.2:c.10366G>T | XP_006724536.1:p.Glu3456Ter | |
| XM_006724474.2:c.10223+9177G>T | XP_006724537.1:n.10223+9177G>T | |
| XM_006724475.2:c.10223+9177G>T | XP_006724538.1:n.10223+9177G>T | |
| XM_011545467.1:c.10381G>T | XP_011543769.1:p.Glu3461Ter | |
| XM_006724469.3:c.10480G>T | XP_006724532.1:p.Glu3494Ter | |
| XM_006724470.3:c.10465G>T | XP_006724533.1:p.Glu3489Ter | |
| XM_006724474.3:c.10223+9177G>T | XP_006724537.1:n.10223+9177G>T | |
| XM_017029328.1:c.10465G>T | XP_016884817.1:p.Glu3489Ter | |
| XM_017029331.1:c.4678G>T | XP_016884820.1:p.Glu1560Ter | |
| NM_000109.4:c.10480G>T | NP_000100.3:p.Glu3494Ter | |
| NM_004006.3:c.10504G>T MANE Select | NP_003997.2:p.Glu3502Ter | |
| NM_004011.4:c.6481G>T | NP_004002.3:p.Glu2161Ter | |
| NM_004012.4:c.6472G>T | NP_004003.2:p.Glu2158Ter | |
| NM_004015.3:c.1300G>T | NP_004006.1:p.Glu434Ter | |
| NM_004016.3:c.1300G>T | NP_004007.1:p.Glu434Ter | |
| NM_004017.3:c.1261G>T | NP_004008.1:p.Glu421Ter | |
| NM_004018.3:c.1261G>T | NP_004009.1:p.Glu421Ter | |
| NM_004021.3:c.3124G>T | NP_004012.2:p.Glu1042Ter | |
| NM_004023.3:c.2843+9177G>T | NP_004014.2:n.2843+9177G>T | |
| NM_004013.3:c.3124G>T | NP_004004.2:p.Glu1042Ter | |
| NM_004014.3:c.2317G>T | NP_004005.2:p.Glu773Ter | |
| NM_004020.4:c.2843+9177G>T | NP_004011.3:n.2843+9177G>T | |
| NM_004022.3:c.3085G>T | NP_004013.2:p.Glu1029Ter |