Linked Data
ClinVar Variation Id:
351036
dbSNP Id:
rs200798994
ExAC:
5:13735307 C / A
gnomAD v2:
5-13735307-C-A
gnomAD v3:
5-13735198-C-A
gnomAD v4:
5-13735198-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13735198C>A , CM000667.2:g.13735198C>A | GRCh38 |
| NC_000005.9:g.13735307C>A , CM000667.1:g.13735307C>A | GRCh37 |
| NC_000005.8:g.13788307C>A | NCBI36 |
| NG_013081.1:g.214283G>T | |
| NG_013081.2:g.214283G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265104.5:c.11694G>T MANE Select | ENSP00000265104.4:p.Leu3898Phe | |
| ENST00000681290.1:c.11649G>T | ENSP00000505288.1:p.Leu3883Phe | |
| ENST00000265104.4:c.11694G>T | ENSP00000265104.4:p.Leu3898Phe | |
| NM_001369.2:c.11694G>T | NP_001360.1:p.Leu3898Phe | |
| XM_005248262.2:c.11649G>T | XP_005248319.1:p.Leu3883Phe | |
| XM_005248262.3:c.11802G>T | XP_005248319.2:p.Leu3934Phe | |
| XM_017009177.1:c.11802G>T | XP_016864666.1:p.Leu3934Phe | |
| XM_017009178.1:c.10707G>T | XP_016864667.1:p.Leu3569Phe | |
| XM_017009179.2:c.10707G>T | XP_016864668.1:p.Leu3569Phe | |
| XM_017009180.1:c.11802G>T | XP_016864669.1:p.Leu3934Phe | |
| XM_017009181.1:c.11802G>T | XP_016864670.1:p.Leu3934Phe | |
| XM_017009185.1:c.6891G>T | XP_016864674.1:p.Leu2297Phe | |
| XM_017009186.1:c.6444G>T | XP_016864675.1:p.Leu2148Phe | |
| XM_017009188.1:c.5781G>T | XP_016864677.1:p.Leu1927Phe | |
| XM_024454388.1:c.10707G>T | XP_024310156.1:p.Leu3569Phe | |
| XM_024454389.1:c.10296G>T | XP_024310157.1:p.Leu3432Phe | |
| NM_001369.3:c.11694G>T MANE Select | NP_001360.1:p.Leu3898Phe |