Linked Data
ClinVar Variation Id:
323778
dbSNP Id:
rs202150313
ExAC:
17:44143920 C / T
gnomAD v2:
17-44143920-C-T
gnomAD v3:
17-46066554-C-T
gnomAD v4:
17-46066554-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46066554C>T , CM000679.2:g.46066554C>T | GRCh38 |
| NC_000017.10:g.44143920C>T , CM000679.1:g.44143920C>T | GRCh37 |
| NC_000017.9:g.41499742C>T | NCBI36 |
| NG_032784.1:g.163821G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432791.7:c.1831G>A MANE Select | ENSP00000387393.3:p.Val611Ile | |
| ENST00000571698.2:c.1831G>A | ENSP00000459330.2:p.Val611Ile | |
| ENST00000572904.6:c.1831G>A | ENSP00000461484.1:p.Val611Ile | |
| ENST00000574590.6:c.1831G>A | ENSP00000461812.2:p.Val611Ile | |
| ENST00000575318.6:c.1831G>A | ENSP00000461299.1:p.Val611Ile | |
| ENST00000577114.2:n.557G>A | ||
| ENST00000638275.1:c.1831G>A | ENSP00000492576.1:p.Val611Ile | |
| ENST00000639150.1:c.565G>A | ENSP00000491906.1:p.Val189Ile | |
| ENST00000639375.1:n.2069G>A | ||
| ENST00000639531.1:c.1831G>A | ENSP00000491765.1:p.Val611Ile | |
| ENST00000639853.1:c.1002G>A | ||
| ENST00000648792.1:c.1831G>A | ENSP00000497628.1:p.Val611Ile | |
| ENST00000262419.10:c.1831G>A | ENSP00000262419.6:p.Val611Ile | |
| ENST00000432791.5:c.1831G>A | ENSP00000387393.2:p.Val611Ile | |
| ENST00000572904.5:c.1831G>A | ENSP00000461484.1:p.Val611Ile | |
| ENST00000574590.5:c.1831G>A | ENSP00000461812.1:p.Val611Ile | |
| ENST00000575318.5:c.1831G>A | ENSP00000461299.1:p.Val611Ile | |
| ENST00000577114.1:n.628G>A | ||
| NM_001193465.1:c.1831G>A | NP_001180394.1:p.Val611Ile | |
| NM_001193466.1:c.1831G>A | NP_001180395.1:p.Val611Ile | |
| NM_015443.3:c.1831G>A | NP_056258.1:p.Val611Ile | |
| XM_006721823.1:c.1831G>A | XP_006721886.1:p.Val611Ile | |
| XM_006721824.2:c.1831G>A | XP_006721887.1:p.Val611Ile | |
| XM_011524628.1:c.1831G>A | XP_011522930.1:p.Val611Ile | |
| XM_011524629.1:c.1729G>A | XP_011522931.1:p.Val577Ile | |
| XM_011524630.1:c.1831G>A | XP_011522932.1:p.Val611Ile | |
| XM_011524631.1:c.1831G>A | XP_011522933.1:p.Val611Ile | |
| XM_011524632.1:c.601G>A | XP_011522934.1:p.Val201Ile | |
| XM_006721823.2:c.1831G>A | XP_006721886.1:p.Val611Ile | |
| XM_006721824.4:c.1831G>A | XP_006721887.1:p.Val611Ile | |
| XM_011524628.3:c.1831G>A | XP_011522930.1:p.Val611Ile | |
| XM_011524629.3:c.1729G>A | XP_011522931.1:p.Val577Ile | |
| XM_011524630.3:c.1831G>A | XP_011522932.1:p.Val611Ile | |
| XM_011524631.3:c.1831G>A | XP_011522933.1:p.Val611Ile | |
| XM_011524632.3:c.601G>A | XP_011522934.1:p.Val201Ile | |
| XM_017024488.2:c.1831G>A | XP_016879977.1:p.Val611Ile | |
| XM_017024489.1:c.1729G>A | XP_016879978.1:p.Val577Ile | |
| NM_001193466.2:c.1831G>A | NP_001180395.1:p.Val611Ile | |
| NM_015443.4:c.1831G>A MANE Select | NP_056258.1:p.Val611Ile | |
| NM_001193465.2:c.1831G>A | NP_001180394.1:p.Val611Ile | |
| NM_001379198.1:c.1831G>A | NP_001366127.1:p.Val611Ile |