Linked Data
ClinVar Variation Id:
1690630
dbSNP Id:
rs2126629821
MyVariant Identifiers:
chr4:g.146576334C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.145655182C>A , CM000666.2:g.145655182C>A | GRCh38 |
| NC_000004.11:g.146576334C>A , CM000666.1:g.146576334C>A | GRCh37 |
| NC_000004.10:g.146795784C>A | NCBI36 |
| NG_007536.1:g.40885C>A | |
| NG_007536.2:g.61141C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541599.5:c.1005C>A | ENSP00000442284.3:p.Ile335= | |
| ENST00000647947.1:c.*789C>A | ENSP00000496781.1:n.*789C>A | |
| ENST00000648388.1:c.1005C>A | ENSP00000497046.1:p.Ile335= | |
| ENST00000649156.2:c.1005C>A MANE Select | ENSP00000497008.1:p.Ile335= | |
| ENST00000649173.1:c.939C>A | ENSP00000497871.1:p.Ile313= | |
| ENST00000649704.1:c.1005C>A | ENSP00000497680.1:p.Ile335= | |
| ENST00000679563.1:c.1005C>A | ENSP00000506503.1:p.Ile335= | |
| ENST00000679930.1:c.*524C>A | ENSP00000506293.1:n.*524C>A | |
| ENST00000281317.9:c.1005C>A | ENSP00000281317.5:p.Ile335= | |
| ENST00000503730.1:n.415C>A | ||
| ENST00000511969.4:c.*136C>A | ENSP00000427422.1:n.*136C>A | |
| ENST00000541599.4:c.1005C>A | ENSP00000442284.2:p.Ile335= | |
| NM_172250.2:c.1005C>A | NP_758454.1:p.Ile335= | |
| XM_011531684.1:c.1005C>A | XP_011529986.1:p.Ile335= | |
| XM_011531685.1:c.1005C>A | XP_011529987.1:p.Ile335= | |
| XM_011531686.1:c.510C>A | XP_011529988.1:p.Ile170= | |
| NM_172250.3:c.1005C>A MANE Select | NP_758454.1:p.Ile335= | |
| XM_011531684.3:c.1005C>A | XP_011529986.1:p.Ile335= | |
| XM_011531685.2:c.1005C>A | XP_011529987.1:p.Ile335= | |
| XM_011531686.2:c.510C>A | XP_011529988.1:p.Ile170= | |
| NM_001375644.1:c.1005C>A | NP_001362573.1:p.Ile335= |