Linked Data
ClinVar Variation Id:
2798974
ClinVar RCV Id:
RCV003647453
MyVariant Identifiers:
chr5:g.13735309A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13735200A>G , CM000667.2:g.13735200A>G | GRCh38 |
| NC_000005.9:g.13735309A>G , CM000667.1:g.13735309A>G | GRCh37 |
| NC_000005.8:g.13788309A>G | NCBI36 |
| NG_013081.1:g.214281T>C | |
| NG_013081.2:g.214281T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265104.5:c.11692T>C MANE Select | ENSP00000265104.4:p.Leu3898= | |
| ENST00000681290.1:c.11647T>C | ENSP00000505288.1:p.Leu3883= | |
| ENST00000265104.4:c.11692T>C | ENSP00000265104.4:p.Leu3898= | |
| NM_001369.2:c.11692T>C | NP_001360.1:p.Leu3898= | |
| XM_005248262.2:c.11647T>C | XP_005248319.1:p.Leu3883= | |
| XM_005248262.3:c.11800T>C | XP_005248319.2:p.Leu3934= | |
| XM_017009177.1:c.11800T>C | XP_016864666.1:p.Leu3934= | |
| XM_017009178.1:c.10705T>C | XP_016864667.1:p.Leu3569= | |
| XM_017009179.2:c.10705T>C | XP_016864668.1:p.Leu3569= | |
| XM_017009180.1:c.11800T>C | XP_016864669.1:p.Leu3934= | |
| XM_017009181.1:c.11800T>C | XP_016864670.1:p.Leu3934= | |
| XM_017009185.1:c.6889T>C | XP_016864674.1:p.Leu2297= | |
| XM_017009186.1:c.6442T>C | XP_016864675.1:p.Leu2148= | |
| XM_017009188.1:c.5779T>C | XP_016864677.1:p.Leu1927= | |
| XM_024454388.1:c.10705T>C | XP_024310156.1:p.Leu3569= | |
| XM_024454389.1:c.10294T>C | XP_024310157.1:p.Leu3432= | |
| NM_001369.3:c.11692T>C MANE Select | NP_001360.1:p.Leu3898= |