Linked Data
ClinVar Variation Id:
746164
ClinVar RCV Id:
RCV001479592
dbSNP Id:
rs1580176858
MyVariant Identifiers:
chr5:g.13776711C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13776602C>G , CM000667.2:g.13776602C>G | GRCh38 |
| NC_000005.9:g.13776711C>G , CM000667.1:g.13776711C>G | GRCh37 |
| NC_000005.8:g.13829711C>G | NCBI36 |
| NG_013081.1:g.172879G>C | |
| NG_013081.2:g.172879G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9210G>C MANE Select | ENSP00000265104.4:p.Leu3070= | |
| ENST00000681290.1:c.9165G>C | ENSP00000505288.1:p.Leu3055= | |
| ENST00000265104.4:c.9210G>C | ENSP00000265104.4:p.Leu3070= | |
| NM_001369.2:c.9210G>C | NP_001360.1:p.Leu3070= | |
| XM_005248262.2:c.9165G>C | XP_005248319.1:p.Leu3055= | |
| XM_005248262.3:c.9318G>C | XP_005248319.2:p.Leu3106= | |
| XM_017009177.1:c.9318G>C | XP_016864666.1:p.Leu3106= | |
| XM_017009178.1:c.8223G>C | XP_016864667.1:p.Leu2741= | |
| XM_017009179.2:c.8223G>C | XP_016864668.1:p.Leu2741= | |
| XM_017009180.1:c.9318G>C | XP_016864669.1:p.Leu3106= | |
| XM_017009181.1:c.9318G>C | XP_016864670.1:p.Leu3106= | |
| XM_017009182.1:c.9318G>C | XP_016864671.1:p.Leu3106= | |
| XM_017009183.1:c.9318G>C | XP_016864672.1:p.Leu3106= | |
| XM_017009185.1:c.4407G>C | XP_016864674.1:p.Leu1469= | |
| XM_017009186.1:c.3960G>C | XP_016864675.1:p.Leu1320= | |
| XM_017009188.1:c.3297G>C | XP_016864677.1:p.Leu1099= | |
| XM_024454388.1:c.8223G>C | XP_024310156.1:p.Leu2741= | |
| XM_024454389.1:c.7812G>C | XP_024310157.1:p.Leu2604= | |
| NM_001369.3:c.9210G>C MANE Select | NP_001360.1:p.Leu3070= |