Linked Data
ClinVar Variation Id:
1142435
ClinVar RCV Id:
RCV001480239
dbSNP Id:
rs2126701138
gnomAD v4:
5-13753362-C-A
MyVariant Identifiers:
chr5:g.13753471C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13753362C>A , CM000667.2:g.13753362C>A | GRCh38 |
| NC_000005.9:g.13753471C>A , CM000667.1:g.13753471C>A | GRCh37 |
| NC_000005.8:g.13806471C>A | NCBI36 |
| NG_013081.1:g.196119G>T | |
| NG_013081.2:g.196119G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10743G>T MANE Select | ENSP00000265104.4:p.Leu3581= | |
| ENST00000681290.1:c.10698G>T | ENSP00000505288.1:p.Leu3566= | |
| ENST00000265104.4:c.10743G>T | ENSP00000265104.4:p.Leu3581= | |
| NM_001369.2:c.10743G>T | NP_001360.1:p.Leu3581= | |
| XM_005248262.2:c.10698G>T | XP_005248319.1:p.Leu3566= | |
| XM_005248262.3:c.10851G>T | XP_005248319.2:p.Leu3617= | |
| XM_017009177.1:c.10851G>T | XP_016864666.1:p.Leu3617= | |
| XM_017009178.1:c.9756G>T | XP_016864667.1:p.Leu3252= | |
| XM_017009179.2:c.9756G>T | XP_016864668.1:p.Leu3252= | |
| XM_017009180.1:c.10851G>T | XP_016864669.1:p.Leu3617= | |
| XM_017009181.1:c.10851G>T | XP_016864670.1:p.Leu3617= | |
| XM_017009182.1:c.10851G>T | XP_016864671.1:p.Leu3617= | |
| XM_017009185.1:c.5940G>T | XP_016864674.1:p.Leu1980= | |
| XM_017009186.1:c.5493G>T | XP_016864675.1:p.Leu1831= | |
| XM_017009188.1:c.4830G>T | XP_016864677.1:p.Leu1610= | |
| XM_024454388.1:c.9756G>T | XP_024310156.1:p.Leu3252= | |
| XM_024454389.1:c.9345G>T | XP_024310157.1:p.Leu3115= | |
| NM_001369.3:c.10743G>T MANE Select | NP_001360.1:p.Leu3581= |