Linked Data
ClinVar Variation Id:
214360
dbSNP Id:
rs145771944
ExAC:
9:97365815 T / A
gnomAD v2:
9-97365815-T-A
gnomAD v3:
9-94603533-T-A
gnomAD v4:
9-94603533-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94603533T>A , CM000671.2:g.94603533T>A | GRCh38 |
| NC_000009.11:g.97365815T>A , CM000671.1:g.97365815T>A | GRCh37 |
| NC_000009.10:g.96405636T>A | NCBI36 |
| NG_008174.1:g.41717A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682520.1:c.1025A>T | ENSP00000507547.1:n.1025A>T | |
| ENST00000375326.9:c.865A>T MANE Select | ENSP00000364475.5:p.Met289Leu | |
| ENST00000648117.1:c.670A>T | ENSP00000498145.1:p.Met224Leu | |
| ENST00000375326.8:c.865A>T | ENSP00000364475.4:p.Met289Leu | |
| ENST00000415431.5:c.865A>T | ENSP00000408025.1:p.Met289Leu | |
| NM_000507.3:c.865A>T | NP_000498.2:p.Met289Leu | |
| NM_001127628.1:c.865A>T | NP_001121100.1:p.Met289Leu | |
| XM_006717005.2:c.619A>T | XP_006717068.1:p.Met207Leu | |
| XM_006717005.4:c.619A>T | XP_006717068.1:p.Met207Leu | |
| NM_000507.4:c.865A>T MANE Select | NP_000498.2:p.Met289Leu | |
| NM_001127628.2:c.865A>T | NP_001121100.1:p.Met289Leu |