Linked Data
dbSNP Id:
rs1555547754
ExAC:
17:436098 A / G
gnomAD v2:
17-436098-A-G
gnomAD v3:
17-532858-A-G
gnomAD v4:
17-532858-A-G
MyVariant Identifiers:
chr17:g.436098A>G (hg19)
chr17:g.436098_436099delinsGT (hg19)
chr17:g.532858A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.532858A>G , CM000679.2:g.532858A>G | GRCh38 |
| NC_000017.10:g.436098A>G , CM000679.1:g.436098A>G | GRCh37 |
| NC_000017.9:g.382848A>G | NCBI36 |
| NG_034190.1:g.186999T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291074.10:c.1982T>C | ENSP00000291074.5:p.Met661Thr | |
| ENST00000437048.7:c.2069T>C MANE Select | ENSP00000401435.2:p.Met690Thr | |
| ENST00000571805.6:c.2069T>C | ENSP00000459312.1:p.Met690Thr | |
| ENST00000572334.7:c.1700T>C | ENSP00000506188.1:p.Met567Thr | |
| ENST00000679817.1:c.299T>C | ENSP00000505032.1:p.Met100Thr | |
| ENST00000680128.1:c.1865T>C | ENSP00000506159.1:p.Met622Thr | |
| ENST00000680465.1:c.2069T>C | ENSP00000505997.1:p.Met690Thr | |
| ENST00000680641.1:c.*3318T>C | ENSP00000505237.1:n.*3318T>C | |
| ENST00000680704.1:c.1700T>C | ENSP00000506453.1:p.Met567Thr | |
| ENST00000680872.1:c.*1195T>C | ENSP00000506605.1:n.*1195T>C | |
| ENST00000681050.1:c.282T>C | ||
| ENST00000681096.1:c.1610T>C | ENSP00000506052.1:p.Met537Thr | |
| ENST00000681103.1:c.299T>C | ENSP00000505892.1:p.Met100Thr | |
| ENST00000681160.1:c.1700T>C | ENSP00000504905.1:p.Met567Thr | |
| ENST00000681317.1:c.2015+4170T>C | ENSP00000505190.1:n.2015+4170T>C | |
| ENST00000681478.1:c.*1889T>C | ENSP00000505041.1:n.*1889T>C | |
| ENST00000681510.1:c.1919T>C | ENSP00000505594.1:p.Met640Thr | |
| ENST00000681600.1:n.1164T>C | ||
| ENST00000681661.1:c.*1050T>C | ENSP00000506596.1:n.*1050T>C | |
| ENST00000681858.1:c.299T>C | ENSP00000505044.1:p.Met100Thr | |
| ENST00000681917.1:c.1538T>C | ENSP00000505944.1:p.Met513Thr | |
| ENST00000681943.1:c.1787T>C | ENSP00000504889.1:n.1787T>C | |
| ENST00000681946.1:c.*1050T>C | ENSP00000505563.1:n.*1050T>C | |
| ENST00000291074.9:c.1982T>C | ENSP00000291074.5:p.Met661Thr | |
| ENST00000389040.9:c.1872T>C | ENSP00000373692.5:n.1872T>C | |
| ENST00000401468.7:c.1238T>C | ENSP00000384294.3:p.Met413Thr | |
| ENST00000437048.6:c.2069T>C | ENSP00000401435.2:p.Met690Thr | |
| ENST00000570771.1:n.136T>C | ||
| ENST00000571805.5:c.2069T>C | ENSP00000459312.1:p.Met690Thr | |
| ENST00000573028.5:c.*1516T>C | ENSP00000458311.1:n.*1516T>C | |
| ENST00000574029.5:c.207-15219T>C | ENSP00000459159.1:n.207-15219T>C | |
| ENST00000576149.5:n.1839T>C | ||
| NM_001128159.2:c.2069T>C | NP_001121631.1:p.Met690Thr | |
| NM_018289.3:c.1982T>C | NP_060759.2:p.Met661Thr | |
| XM_011523953.1:c.1475T>C | XP_011522255.1:p.Met492Thr | |
| XR_934061.1:n.2366T>C | ||
| XR_934133.1:n.291-7531A>G | ||
| NM_001366253.1:c.2069T>C | NP_001353182.1:p.Met690Thr | |
| NM_001366254.1:c.1475T>C | NP_001353183.1:p.Met492Thr | |
| XM_017024817.2:c.1919T>C | XP_016880306.1:p.Met640Thr | |
| XM_017024818.1:c.1700T>C | XP_016880307.1:p.Met567Thr | |
| XR_001752553.2:n.2206T>C | ||
| XR_934061.3:n.2356T>C | ||
| NM_001128159.3:c.2069T>C MANE Select | NP_001121631.1:p.Met690Thr | |
| NM_001366253.2:c.2069T>C | NP_001353182.1:p.Met690Thr | |
| NM_001366254.2:c.1475T>C | NP_001353183.1:p.Met492Thr | |
| NM_018289.4:c.1982T>C | NP_060759.2:p.Met661Thr |