Linked Data
ClinVar Variation Id:
427194
dbSNP Id:
rs1085308017
gnomAD v2:
18-21494503-A-T
gnomAD v4:
18-23914539-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23914539A>T , CM000680.2:g.23914539A>T | GRCh38 |
| NC_000018.9:g.21494503A>T , CM000680.1:g.21494503A>T | GRCh37 |
| NC_000018.8:g.19748501A>T | NCBI36 |
| NG_007853.2:g.229942A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269217.11:c.2632A>T MANE Plus Clinical | ENSP00000269217.5:p.Met878Leu | |
| ENST00000313654.14:c.7459A>T MANE Select | ENSP00000324532.8:p.Met2487Leu | |
| ENST00000649721.1:c.4054A>T | ENSP00000497885.1:p.Met1352Leu | |
| ENST00000269217.10:c.2632A>T | ENSP00000269217.5:p.Met878Leu | |
| ENST00000313654.13:c.7459A>T | ENSP00000324532.8:p.Met2487Leu | |
| ENST00000399516.7:c.7291A>T | ENSP00000382432.2:p.Met2431Leu | |
| ENST00000586751.5:c.2237A>T | ||
| ENST00000587184.5:c.2464A>T | ENSP00000466557.1:p.Met822Leu | |
| ENST00000588770.5:n.2037A>T | ||
| NM_000227.4:c.2632A>T | NP_000218.3:p.Met878Leu | |
| NM_001127717.2:c.7291A>T | NP_001121189.2:p.Met2431Leu | |
| NM_001127718.2:c.2464A>T | NP_001121190.2:p.Met822Leu | |
| NM_198129.2:c.7459A>T | NP_937762.2:p.Met2487Leu | |
| XM_011525978.1:c.7486A>T | XP_011524280.1:p.Met2496Leu | |
| XM_011525979.1:c.7477A>T | XP_011524281.1:p.Met2493Leu | |
| XM_011525980.1:c.7468A>T | XP_011524282.1:p.Met2490Leu | |
| XM_011525981.1:c.7354A>T | XP_011524283.1:p.Met2452Leu | |
| XM_011525982.1:c.7189A>T | XP_011524284.1:p.Met2397Leu | |
| XM_011525978.2:c.7486A>T | XP_011524280.1:p.Met2496Leu | |
| XM_011525979.2:c.7477A>T | XP_011524281.1:p.Met2493Leu | |
| XM_011525980.2:c.7468A>T | XP_011524282.1:p.Met2490Leu | |
| XM_011525981.2:c.7354A>T | XP_011524283.1:p.Met2452Leu | |
| XM_011525982.2:c.7189A>T | XP_011524284.1:p.Met2397Leu | |
| XM_017025743.1:c.5338A>T | XP_016881232.1:p.Met1780Leu | |
| XM_017025744.1:c.3028A>T | XP_016881233.1:p.Met1010Leu | |
| XR_001753199.1:n.7727A>T | ||
| NM_000227.5:c.2632A>T | NP_000218.3:p.Met878Leu | |
| NM_001127717.3:c.7291A>T | NP_001121189.2:p.Met2431Leu | |
| NM_001127718.3:c.2464A>T | NP_001121190.2:p.Met822Leu | |
| NM_198129.3:c.7459A>T | NP_937762.2:p.Met2487Leu | |
| NM_000227.6:c.2632A>T MANE Plus Clinical | NP_000218.3:p.Met878Leu | |
| NM_001127717.4:c.7291A>T | NP_001121189.2:p.Met2431Leu | |
| NM_001127718.4:c.2464A>T | NP_001121190.2:p.Met822Leu | |
| NM_198129.4:c.7459A>T MANE Select | NP_937762.2:p.Met2487Leu |