Linked Data
ClinVar Variation Id:
2092001
ClinVar RCV Id:
RCV003015890
MyVariant Identifiers:
chr4:g.187205370C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284216C>A , CM000666.2:g.186284216C>A | GRCh38 |
| NC_000004.11:g.187205370C>A , CM000666.1:g.187205370C>A | GRCh37 |
| NC_000004.10:g.187442364C>A | NCBI36 |
| NG_008051.1:g.23253C>A , LRG_583:g.23253C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403665.7:c.1260C>A MANE Select | ENSP00000384957.2:p.Ile420= | |
| ENST00000264692.8:c.1098C>A | ENSP00000264692.5:p.Ile366= | |
| ENST00000403665.6:c.1260C>A | ENSP00000384957.2:p.Ile420= | |
| NM_000128.3:c.1260C>A , LRG_583t1:c.1260C>A | NP_000119.1:p.Ile420= | |
| XM_005262821.2:c.1263C>A | XP_005262878.1:p.Ile421= | |
| XM_005262822.2:c.1263C>A | XP_005262879.1:p.Ile421= | |
| XM_005262823.2:c.993C>A | XP_005262880.1:p.Ile331= | |
| XM_005262824.1:c.1263C>A | XP_005262881.1:p.Ile421= | |
| XM_006714137.1:c.1215C>A | XP_006714200.1:p.Ile405= | |
| XR_938706.1:n.1668C>A | ||
| XR_938707.1:n.1668C>A | ||
| XM_005262821.4:c.1263C>A | XP_005262878.1:p.Ile421= | |
| XM_005262822.4:c.1263C>A | XP_005262879.1:p.Ile421= | |
| XM_005262823.4:c.993C>A | XP_005262880.1:p.Ile331= | |
| XM_006714137.3:c.1215C>A | XP_006714200.1:p.Ile405= | |
| XR_001741172.2:n.1734C>A | ||
| NM_000128.4:c.1260C>A MANE Select | NP_000119.1:p.Ile420= |