Linked Data
ClinVar Variation Id:
2785028
ClinVar RCV Id:
RCV003648176
gnomAD v4:
5-13776554-G-A
MyVariant Identifiers:
chr5:g.13776663G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13776554G>A , CM000667.2:g.13776554G>A | GRCh38 |
| NC_000005.9:g.13776663G>A , CM000667.1:g.13776663G>A | GRCh37 |
| NC_000005.8:g.13829663G>A | NCBI36 |
| NG_013081.1:g.172927C>T | |
| NG_013081.2:g.172927C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9258C>T MANE Select | ENSP00000265104.4:p.Leu3086= | |
| ENST00000681290.1:c.9213C>T | ENSP00000505288.1:p.Leu3071= | |
| ENST00000265104.4:c.9258C>T | ENSP00000265104.4:p.Leu3086= | |
| NM_001369.2:c.9258C>T | NP_001360.1:p.Leu3086= | |
| XM_005248262.2:c.9213C>T | XP_005248319.1:p.Leu3071= | |
| XM_005248262.3:c.9366C>T | XP_005248319.2:p.Leu3122= | |
| XM_017009177.1:c.9366C>T | XP_016864666.1:p.Leu3122= | |
| XM_017009178.1:c.8271C>T | XP_016864667.1:p.Leu2757= | |
| XM_017009179.2:c.8271C>T | XP_016864668.1:p.Leu2757= | |
| XM_017009180.1:c.9366C>T | XP_016864669.1:p.Leu3122= | |
| XM_017009181.1:c.9366C>T | XP_016864670.1:p.Leu3122= | |
| XM_017009182.1:c.9366C>T | XP_016864671.1:p.Leu3122= | |
| XM_017009183.1:c.9366C>T | XP_016864672.1:p.Leu3122= | |
| XM_017009185.1:c.4455C>T | XP_016864674.1:p.Leu1485= | |
| XM_017009186.1:c.4008C>T | XP_016864675.1:p.Leu1336= | |
| XM_017009188.1:c.3345C>T | XP_016864677.1:p.Leu1115= | |
| XM_024454388.1:c.8271C>T | XP_024310156.1:p.Leu2757= | |
| XM_024454389.1:c.7860C>T | XP_024310157.1:p.Leu2620= | |
| NM_001369.3:c.9258C>T MANE Select | NP_001360.1:p.Leu3086= |