Linked Data
ClinVar Variation Id:
1088934
ClinVar RCV Id:
RCV001407590
dbSNP Id:
rs2126455723
gnomAD v4:
5-13708228-G-A
COSMIC:
COSM448632
MyVariant Identifiers:
chr5:g.13708337G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13708228G>A , CM000667.2:g.13708228G>A | GRCh38 |
| NC_000005.9:g.13708337G>A , CM000667.1:g.13708337G>A | GRCh37 |
| NC_000005.8:g.13761337G>A | NCBI36 |
| NG_013081.1:g.241253C>T | |
| NG_013081.2:g.241253C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.566C>T | ||
| ENST00000265104.5:c.13233C>T MANE Select | ENSP00000265104.4:p.Leu4411= | |
| ENST00000681290.1:c.13188C>T | ENSP00000505288.1:p.Leu4396= | |
| ENST00000265104.4:c.13233C>T | ENSP00000265104.4:p.Leu4411= | |
| NM_001369.2:c.13233C>T | NP_001360.1:p.Leu4411= | |
| XM_005248262.2:c.13188C>T | XP_005248319.1:p.Leu4396= | |
| XM_005248262.3:c.13341C>T | XP_005248319.2:p.Leu4447= | |
| XM_017009177.1:c.12921C>T | XP_016864666.1:p.Leu4307= | |
| XM_017009178.1:c.12246C>T | XP_016864667.1:p.Leu4082= | |
| XM_017009179.2:c.12246C>T | XP_016864668.1:p.Leu4082= | |
| XM_017009185.1:c.8430C>T | XP_016864674.1:p.Leu2810= | |
| XM_017009186.1:c.7983C>T | XP_016864675.1:p.Leu2661= | |
| XM_017009188.1:c.7320C>T | XP_016864677.1:p.Leu2440= | |
| XM_024454388.1:c.12246C>T | XP_024310156.1:p.Leu4082= | |
| XM_024454389.1:c.11835C>T | XP_024310157.1:p.Leu3945= | |
| NM_001369.3:c.13233C>T MANE Select | NP_001360.1:p.Leu4411= |