Linked Data
ClinVar Variation Id:
1390702
ClinVar RCV Id:
RCV001889607
dbSNP Id:
rs1396396580
gnomAD v2:
2-15564515-A-T
gnomAD v3:
2-15424391-A-T
gnomAD v4:
2-15424391-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15424391A>T , CM000664.2:g.15424391A>T | GRCh38 |
| NC_000002.11:g.15564515A>T , CM000664.1:g.15564515A>T | GRCh37 |
| NC_000002.10:g.15481966A>T | NCBI36 |
| NG_032964.1:g.141958T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700061.1:c.598T>A | ||
| ENST00000700062.1:c.598T>A | ||
| ENST00000700065.1:n.2514T>A | ||
| ENST00000700066.1:c.2018T>A | ENSP00000514780.1:p.Met673Lys | |
| ENST00000281513.10:c.2501T>A MANE Select | ENSP00000281513.5:p.Met834Lys | |
| ENST00000281513.9:c.2501T>A | ENSP00000281513.5:p.Met834Lys | |
| ENST00000441755.5:c.2T>A | ENSP00000396501.1:p.Met1Lys | |
| ENST00000442506.5:c.4T>A | ||
| NM_015909.3:c.2501T>A | NP_056993.2:p.Met834Lys | |
| NR_052013.2:n.2545T>A | ||
| XM_011510357.1:c.2372T>A | XP_011508659.1:p.Met791Lys | |
| XM_011510358.1:c.2501T>A | XP_011508660.1:p.Met834Lys | |
| XM_011510359.1:c.1862T>A | XP_011508661.1:p.Met621Lys | |
| XM_011510360.1:c.302T>A | XP_011508662.1:p.Met101Lys | |
| XM_011510361.1:c.293T>A | XP_011508663.1:p.Met98Lys | |
| XM_011510357.2:c.2372T>A | XP_011508659.1:p.Met791Lys | |
| XM_011510358.2:c.2501T>A | XP_011508660.1:p.Met834Lys | |
| XM_011510360.2:c.302T>A | XP_011508662.1:p.Met101Lys | |
| XM_011510361.2:c.293T>A | XP_011508663.1:p.Met98Lys | |
| XM_017004317.1:c.2501T>A | XP_016859806.1:p.Met834Lys | |
| XM_024452961.1:c.1862T>A | XP_024308729.1:p.Met621Lys | |
| NM_015909.4:c.2501T>A MANE Select | NP_056993.2:p.Met834Lys | |
| NR_052013.3:n.2531T>A |