Linked Data
ClinVar Variation Id:
2151525
ClinVar RCV Id:
RCV003078910
gnomAD v4:
5-13753542-T-C
MyVariant Identifiers:
chr5:g.13753651T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13753542T>C , CM000667.2:g.13753542T>C | GRCh38 |
| NC_000005.9:g.13753651T>C , CM000667.1:g.13753651T>C | GRCh37 |
| NC_000005.8:g.13806651T>C | NCBI36 |
| NG_013081.1:g.195939A>G | |
| NG_013081.2:g.195939A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10563A>G MANE Select | ENSP00000265104.4:p.Val3521= | |
| ENST00000681290.1:c.10518A>G | ENSP00000505288.1:p.Val3506= | |
| ENST00000265104.4:c.10563A>G | ENSP00000265104.4:p.Val3521= | |
| NM_001369.2:c.10563A>G | NP_001360.1:p.Val3521= | |
| XM_005248262.2:c.10518A>G | XP_005248319.1:p.Val3506= | |
| XM_005248262.3:c.10671A>G | XP_005248319.2:p.Val3557= | |
| XM_017009177.1:c.10671A>G | XP_016864666.1:p.Val3557= | |
| XM_017009178.1:c.9576A>G | XP_016864667.1:p.Val3192= | |
| XM_017009179.2:c.9576A>G | XP_016864668.1:p.Val3192= | |
| XM_017009180.1:c.10671A>G | XP_016864669.1:p.Val3557= | |
| XM_017009181.1:c.10671A>G | XP_016864670.1:p.Val3557= | |
| XM_017009182.1:c.10671A>G | XP_016864671.1:p.Val3557= | |
| XM_017009185.1:c.5760A>G | XP_016864674.1:p.Val1920= | |
| XM_017009186.1:c.5313A>G | XP_016864675.1:p.Val1771= | |
| XM_017009188.1:c.4650A>G | XP_016864677.1:p.Val1550= | |
| XM_024454388.1:c.9576A>G | XP_024310156.1:p.Val3192= | |
| XM_024454389.1:c.9165A>G | XP_024310157.1:p.Val3055= | |
| NM_001369.3:c.10563A>G MANE Select | NP_001360.1:p.Val3521= |