Linked Data
ClinVar Variation Id:
483173
dbSNP Id:
rs1046992728
gnomAD v2:
17-59760714-T-C
gnomAD v3:
17-61683353-T-C
gnomAD v4:
17-61683353-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683353T>C , CM000679.2:g.61683353T>C | GRCh38 |
| NC_000017.10:g.59760714T>C , CM000679.1:g.59760714T>C | GRCh37 |
| NC_000017.9:g.57115496T>C | NCBI36 |
| NG_007409.2:g.185207A>G , LRG_300:g.185207A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2433A>G | ||
| ENST00000682453.1:c.3693A>G | ENSP00000506943.1:p.Ile1231Met | |
| ENST00000682477.1:c.*3119A>G | ENSP00000507075.1:n.*3119A>G | |
| ENST00000682589.1:n.9570A>G | ||
| ENST00000682755.1:c.3471A>G | ENSP00000507660.1:p.Ile1157Met | |
| ENST00000682989.1:c.*784A>G | ENSP00000507786.1:n.*784A>G | |
| ENST00000683039.1:c.3693A>G | ENSP00000508303.1:p.Ile1231Met | |
| ENST00000683235.1:c.*1108A>G | ENSP00000507646.1:n.*1108A>G | |
| ENST00000683535.1:n.1823A>G | ||
| ENST00000684584.1:c.2856A>G | ENSP00000508044.1:p.Ile952Met | |
| ENST00000684626.1:n.1939A>G | ||
| ENST00000684769.1:c.1883A>G | ENSP00000507691.1:n.1883A>G | |
| ENST00000259008.7:c.3693A>G MANE Select | ENSP00000259008.2:p.Ile1231Met | |
| ENST00000259008.6:c.3693A>G | ENSP00000259008.2:p.Ile1231Met | |
| NM_032043.2:c.3693A>G , LRG_300t1:c.3693A>G | NP_114432.2:p.Ile1231Met | |
| XM_011525332.1:c.3753A>G | XP_011523634.1:p.Ile1251Met | |
| XM_011525333.1:c.3753A>G | XP_011523635.1:p.Ile1251Met | |
| XM_011525334.1:c.3753A>G | XP_011523636.1:p.Ile1251Met | |
| XM_011525335.1:c.3693A>G | XP_011523637.1:p.Ile1231Met | |
| XM_011525336.1:c.3633A>G | XP_011523638.1:p.Ile1211Met | |
| XM_011525337.1:c.3552A>G | XP_011523639.1:p.Ile1184Met | |
| XM_011525338.1:c.3270A>G | XP_011523640.1:p.Ile1090Met | |
| XM_011525332.3:c.3753A>G | XP_011523634.1:p.Ile1251Met | |
| XM_011525333.3:c.3753A>G | XP_011523635.1:p.Ile1251Met | |
| XM_011525334.2:c.3753A>G | XP_011523636.1:p.Ile1251Met | |
| XM_011525335.3:c.3693A>G | XP_011523637.1:p.Ile1231Met | |
| XM_011525336.2:c.3633A>G | XP_011523638.1:p.Ile1211Met | |
| XM_011525337.2:c.3552A>G | XP_011523639.1:p.Ile1184Met | |
| XM_011525338.2:c.3270A>G | XP_011523640.1:p.Ile1090Met | |
| XM_017025200.1:c.3210A>G | XP_016880689.1:p.Ile1070Met | |
| XM_017025201.1:c.3210A>G | XP_016880690.1:p.Ile1070Met | |
| XM_017025202.1:c.1839A>G | XP_016880691.1:p.Ile613Met | |
| XM_017025203.1:c.1839A>G | XP_016880692.1:p.Ile613Met | |
| NM_032043.3:c.3693A>G MANE Select | NP_114432.2:p.Ile1231Met |