Linked Data
ClinVar Variation Id:
318186
dbSNP Id:
rs35301526
ExAC:
16:1616232 C / T
gnomAD v2:
16-1616232-C-T
gnomAD v3:
16-1566231-C-T
gnomAD v4:
16-1566231-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1566231C>T , CM000678.2:g.1566231C>T | GRCh38 |
| NC_000016.9:g.1616232C>T , CM000678.1:g.1616232C>T | GRCh37 |
| NC_000016.8:g.1556233C>T | NCBI36 |
| NG_032783.1:g.50878G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426508.7:c.1831G>A MANE Select | ENSP00000406012.2:p.Val611Ile | |
| ENST00000397417.6:c.*383G>A | ENSP00000380562.2:n.*383G>A | |
| ENST00000426508.6:c.1831G>A | ENSP00000406012.2:p.Val611Ile | |
| ENST00000439987.6:n.1892G>A | ||
| ENST00000565298.5:n.519G>A | ||
| NM_014714.3:c.1831G>A | NP_055529.2:p.Val611Ile | |
| XM_005255725.3:c.1831G>A | XP_005255782.1:p.Val611Ile | |
| XM_005255726.2:c.1831G>A | XP_005255783.1:p.Val611Ile | |
| XM_006720989.2:c.1831G>A | XP_006721052.1:p.Val611Ile | |
| XM_006720990.2:c.1831G>A | XP_006721053.1:p.Val611Ile | |
| XM_006720991.2:c.1831G>A | XP_006721054.1:p.Val611Ile | |
| XM_011522766.1:c.1585G>A | XP_011521068.1:p.Val529Ile | |
| XM_011522767.1:c.856G>A | XP_011521069.1:p.Val286Ile | |
| XM_011522768.1:c.1831G>A | XP_011521070.1:p.Val611Ile | |
| XM_011522769.1:c.1831G>A | XP_011521071.1:p.Val611Ile | |
| XM_011522771.1:c.1831G>A | XP_011521073.1:p.Val611Ile | |
| XM_011522772.1:c.1831G>A | XP_011521074.1:p.Val611Ile | |
| XM_005255725.5:c.1831G>A | XP_005255782.1:p.Val611Ile | |
| XM_005255726.4:c.1831G>A | XP_005255783.1:p.Val611Ile | |
| XM_006720990.3:c.1831G>A | XP_006721053.1:p.Val611Ile | |
| XM_006720991.3:c.1831G>A | XP_006721054.1:p.Val611Ile | |
| XM_011522766.3:c.1585G>A | XP_011521068.1:p.Val529Ile | |
| XM_011522767.2:c.856G>A | XP_011521069.1:p.Val286Ile | |
| XM_011522769.3:c.1831G>A | XP_011521071.1:p.Val611Ile | |
| XM_011522771.3:c.1831G>A | XP_011521073.1:p.Val611Ile | |
| XM_011522772.3:c.1831G>A | XP_011521074.1:p.Val611Ile | |
| XM_017023910.1:c.1831G>A | XP_016879399.1:p.Val611Ile | |
| XM_017023911.1:c.16G>A | XP_016879400.1:p.Val6Ile | |
| NM_014714.4:c.1831G>A MANE Select | NP_055529.2:p.Val611Ile |