Linked Data
ClinVar Variation Id:
2107524
ClinVar RCV Id:
RCV003017437
dbSNP Id:
rs1242769076
gnomAD v2:
17-59885851-T-G
gnomAD v4:
17-61808490-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61808490T>G , CM000679.2:g.61808490T>G | GRCh38 |
| NC_000017.10:g.59885851T>G , CM000679.1:g.59885851T>G | GRCh37 |
| NC_000017.9:g.57240633T>G | NCBI36 |
| NG_007409.2:g.60070A>C , LRG_300:g.60070A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579028.2:c.388A>C | ENSP00000463827.2:p.Met130Leu | |
| ENST00000584322.2:c.895A>C | ENSP00000463272.2:p.Met299Leu | |
| ENST00000682066.1:c.388A>C | ENSP00000507191.1:p.Met130Leu | |
| ENST00000682453.1:c.895A>C | ENSP00000506943.1:p.Met299Leu | |
| ENST00000682477.1:c.895A>C | ENSP00000507075.1:p.Met299Leu | |
| ENST00000682589.1:n.2636A>C | ||
| ENST00000682611.1:c.388A>C | ENSP00000508326.1:p.Met130Leu | |
| ENST00000682755.1:c.895A>C | ENSP00000507660.1:p.Met299Leu | |
| ENST00000682989.1:c.895A>C | ENSP00000507786.1:p.Met299Leu | |
| ENST00000683039.1:c.895A>C | ENSP00000508303.1:p.Met299Leu | |
| ENST00000683235.1:c.895A>C | ENSP00000507646.1:p.Met299Leu | |
| ENST00000683381.1:c.895A>C | ENSP00000508184.1:p.Met299Leu | |
| ENST00000683692.1:c.388A>C | ENSP00000507964.1:p.Met130Leu | |
| ENST00000684584.1:c.388A>C | ENSP00000508044.1:p.Met130Leu | |
| ENST00000259008.7:c.895A>C MANE Select | ENSP00000259008.2:p.Met299Leu | |
| ENST00000259008.6:c.895A>C | ENSP00000259008.2:p.Met299Leu | |
| ENST00000577598.5:c.895A>C | ENSP00000464654.1:p.Met299Leu | |
| NM_032043.2:c.895A>C , LRG_300t1:c.895A>C | NP_114432.2:p.Met299Leu | |
| XM_011525332.1:c.895A>C | XP_011523634.1:p.Met299Leu | |
| XM_011525333.1:c.895A>C | XP_011523635.1:p.Met299Leu | |
| XM_011525334.1:c.895A>C | XP_011523636.1:p.Met299Leu | |
| XM_011525335.1:c.895A>C | XP_011523637.1:p.Met299Leu | |
| XM_011525336.1:c.895A>C | XP_011523638.1:p.Met299Leu | |
| XM_011525337.1:c.895A>C | XP_011523639.1:p.Met299Leu | |
| XM_011525338.1:c.412A>C | XP_011523640.1:p.Met138Leu | |
| XM_011525339.1:c.895A>C | XP_011523641.1:p.Met299Leu | |
| XM_011525340.1:c.895A>C | XP_011523642.1:p.Met299Leu | |
| XM_011525341.1:c.895A>C | XP_011523643.1:p.Met299Leu | |
| XM_011525332.3:c.895A>C | XP_011523634.1:p.Met299Leu | |
| XM_011525333.3:c.895A>C | XP_011523635.1:p.Met299Leu | |
| XM_011525334.2:c.895A>C | XP_011523636.1:p.Met299Leu | |
| XM_011525335.3:c.895A>C | XP_011523637.1:p.Met299Leu | |
| XM_011525336.2:c.895A>C | XP_011523638.1:p.Met299Leu | |
| XM_011525337.2:c.895A>C | XP_011523639.1:p.Met299Leu | |
| XM_011525338.2:c.412A>C | XP_011523640.1:p.Met138Leu | |
| XM_011525339.3:c.895A>C | XP_011523641.1:p.Met299Leu | |
| XM_011525340.3:c.895A>C | XP_011523642.1:p.Met299Leu | |
| XM_011525341.3:c.895A>C | XP_011523643.1:p.Met299Leu | |
| XM_017025200.1:c.412A>C | XP_016880689.1:p.Met138Leu | |
| XM_017025201.1:c.352A>C | XP_016880690.1:p.Met118Leu | |
| NM_032043.3:c.895A>C MANE Select | NP_114432.2:p.Met299Leu |