Linked Data
ClinVar Variation Id:
504588
dbSNP Id:
rs200530343
ExAC:
5:90281188 A / T
gnomAD v2:
5-90281188-A-T
gnomAD v3:
5-90985371-A-T
gnomAD v4:
5-90985371-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90985371A>T , CM000667.2:g.90985371A>T | GRCh38 |
| NC_000005.9:g.90281188A>T , CM000667.1:g.90281188A>T | GRCh37 |
| NC_000005.8:g.90316944A>T | NCBI36 |
| NG_007083.1:g.431572A>T | |
| NG_007083.2:g.461028A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.18001A>T MANE Select | ENSP00000384582.2:p.Met6001Leu | |
| ENST00000425867.3:c.6955A>T | ENSP00000392618.3:p.Met2319Leu | |
| ENST00000638510.1:n.5268A>T | ||
| ENST00000638990.1:c.1213A>T | ||
| ENST00000639431.1:c.293A>T | ENSP00000491057.1:p.Asp98Val | |
| ENST00000639707.1:c.85A>T | ENSP00000492328.1:p.Met29Leu | |
| ENST00000639821.1:c.85A>T | ENSP00000492216.1:p.Met29Leu | |
| ENST00000640369.1:c.85A>T | ENSP00000491401.1:p.Met29Leu | |
| ENST00000640407.1:c.4450A>T | ENSP00000491425.1:n.4450A>T | |
| ENST00000640815.1:c.85A>T | ENSP00000491767.1:p.Met29Leu | |
| ENST00000405460.6:c.18001A>T | ENSP00000384582.2:p.Met6001Leu | |
| ENST00000425867.2:c.4984A>T | ENSP00000392618.2:p.Met1662Leu | |
| NM_032119.3:c.18001A>T | NP_115495.3:p.Met6001Leu | |
| NR_003149.1:n.18014A>T | ||
| XM_011543675.1:c.17998A>T | XP_011541977.1:p.Met6000Leu | |
| XM_011543676.1:c.17920A>T | XP_011541978.1:p.Met5974Leu | |
| XM_011543677.1:c.15304A>T | XP_011541979.1:p.Met5102Leu | |
| NM_032119.4:c.18001A>T MANE Select | NP_115495.3:p.Met6001Leu | |
| XM_017009963.2:c.18022A>T | XP_016865452.1:p.Met6008Leu | |
| XM_017009964.2:c.18019A>T | XP_016865453.1:p.Met6007Leu | |
| XM_017009965.1:c.18019A>T | XP_016865454.1:p.Met6007Leu | |
| XM_017009966.2:c.17941A>T | XP_016865455.1:p.Met5981Leu | |
| XM_017009967.1:c.17926A>T | XP_016865456.1:p.Met5976Leu | |
| XM_017009968.2:c.17842A>T | XP_016865457.1:p.Met5948Leu | |
| XM_017009969.2:c.18022A>T | XP_016865458.1:p.Met6008Leu | |
| XM_017009972.1:c.11140A>T | XP_016865461.1:p.Met3714Leu | |
| XM_017009973.1:c.11119A>T | XP_016865462.1:p.Met3707Leu | |
| NR_003149.2:n.18017A>T |