Linked Data
ClinVar Variation Id:
204950
dbSNP Id:
rs143223159
ExAC:
8:27319236 G / A
gnomAD v2:
8-27319236-G-A
gnomAD v3:
8-27461719-G-A
gnomAD v4:
8-27461719-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27461719G>A , CM000670.2:g.27461719G>A | GRCh38 |
| NC_000008.10:g.27319236G>A , CM000670.1:g.27319236G>A | GRCh37 |
| NC_000008.9:g.27375153G>A | NCBI36 |
| NG_015827.1:g.22578C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000407991.3:c.1500C>T MANE Select | ENSP00000385026.1:p.Ile500= | |
| ENST00000240132.7:c.1455C>T | ENSP00000240132.2:p.Ile485= | |
| ENST00000407991.2:c.1500C>T | ENSP00000385026.1:p.Ile500= | |
| ENST00000520600.1:n.325C>T | ||
| ENST00000520933.7:c.1434C>T | ENSP00000429616.2:p.Ile478= | |
| ENST00000523695.5:c.*902C>T | ENSP00000430612.1:n.*902C>T | |
| NM_000742.3:c.1500C>T | NP_000733.2:p.Ile500= | |
| NM_001282455.1:c.1455C>T | NP_001269384.1:p.Ile485= | |
| XM_005273397.1:c.1023C>T | XP_005273454.1:p.Ile341= | |
| XM_006716282.1:c.1500C>T | XP_006716345.1:p.Ile500= | |
| XM_011544388.1:c.1500C>T | XP_011542690.1:p.Ile500= | |
| XM_011544389.1:c.906C>T | XP_011542691.1:p.Ile302= | |
| NM_001347705.1:c.1023C>T | NP_001334634.1:p.Ile341= | |
| NM_001347706.1:c.1023C>T | NP_001334635.1:p.Ile341= | |
| NM_001347707.1:c.906C>T | NP_001334636.1:p.Ile302= | |
| NM_001347708.1:c.906C>T | NP_001334637.1:p.Ile302= | |
| XM_011544389.2:c.906C>T | XP_011542691.1:p.Ile302= | |
| NM_000742.4:c.1500C>T MANE Select | NP_000733.2:p.Ile500= | |
| NM_001282455.2:c.1455C>T | NP_001269384.1:p.Ile485= | |
| NM_001347705.2:c.1023C>T | NP_001334634.1:p.Ile341= | |
| NM_001347706.2:c.1023C>T | NP_001334635.1:p.Ile341= | |
| NM_001347707.2:c.906C>T | NP_001334636.1:p.Ile302= | |
| NM_001347708.2:c.906C>T | NP_001334637.1:p.Ile302= |