Linked Data
ClinVar Variation Id:
258067
dbSNP Id:
rs147372600
ExAC:
5:13776677 G / T
gnomAD v2:
5-13776677-G-T
gnomAD v3:
5-13776568-G-T
gnomAD v4:
5-13776568-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13776568G>T , CM000667.2:g.13776568G>T | GRCh38 |
| NC_000005.9:g.13776677G>T , CM000667.1:g.13776677G>T | GRCh37 |
| NC_000005.8:g.13829677G>T | NCBI36 |
| NG_013081.1:g.172913C>A | |
| NG_013081.2:g.172913C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9244C>A MANE Select | ENSP00000265104.4:p.Leu3082Ile | |
| ENST00000681290.1:c.9199C>A | ENSP00000505288.1:p.Leu3067Ile | |
| ENST00000265104.4:c.9244C>A | ENSP00000265104.4:p.Leu3082Ile | |
| NM_001369.2:c.9244C>A | NP_001360.1:p.Leu3082Ile | |
| XM_005248262.2:c.9199C>A | XP_005248319.1:p.Leu3067Ile | |
| XM_005248262.3:c.9352C>A | XP_005248319.2:p.Leu3118Ile | |
| XM_017009177.1:c.9352C>A | XP_016864666.1:p.Leu3118Ile | |
| XM_017009178.1:c.8257C>A | XP_016864667.1:p.Leu2753Ile | |
| XM_017009179.2:c.8257C>A | XP_016864668.1:p.Leu2753Ile | |
| XM_017009180.1:c.9352C>A | XP_016864669.1:p.Leu3118Ile | |
| XM_017009181.1:c.9352C>A | XP_016864670.1:p.Leu3118Ile | |
| XM_017009182.1:c.9352C>A | XP_016864671.1:p.Leu3118Ile | |
| XM_017009183.1:c.9352C>A | XP_016864672.1:p.Leu3118Ile | |
| XM_017009185.1:c.4441C>A | XP_016864674.1:p.Leu1481Ile | |
| XM_017009186.1:c.3994C>A | XP_016864675.1:p.Leu1332Ile | |
| XM_017009188.1:c.3331C>A | XP_016864677.1:p.Leu1111Ile | |
| XM_024454388.1:c.8257C>A | XP_024310156.1:p.Leu2753Ile | |
| XM_024454389.1:c.7846C>A | XP_024310157.1:p.Leu2616Ile | |
| NM_001369.3:c.9244C>A MANE Select | NP_001360.1:p.Leu3082Ile |