Linked Data
dbSNP Id:
rs539286465
ExAC:
5:13753633 A / T
gnomAD v2:
5-13753633-A-T
gnomAD v3:
5-13753524-A-T
gnomAD v4:
5-13753524-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13753524A>T , CM000667.2:g.13753524A>T | GRCh38 |
| NC_000005.9:g.13753633A>T , CM000667.1:g.13753633A>T | GRCh37 |
| NC_000005.8:g.13806633A>T | NCBI36 |
| NG_013081.1:g.195957T>A | |
| NG_013081.2:g.195957T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10581T>A MANE Select | ENSP00000265104.4:p.Phe3527Leu | |
| ENST00000681290.1:c.10536T>A | ENSP00000505288.1:p.Phe3512Leu | |
| ENST00000265104.4:c.10581T>A | ENSP00000265104.4:p.Phe3527Leu | |
| NM_001369.2:c.10581T>A | NP_001360.1:p.Phe3527Leu | |
| XM_005248262.2:c.10536T>A | XP_005248319.1:p.Phe3512Leu | |
| XM_005248262.3:c.10689T>A | XP_005248319.2:p.Phe3563Leu | |
| XM_017009177.1:c.10689T>A | XP_016864666.1:p.Phe3563Leu | |
| XM_017009178.1:c.9594T>A | XP_016864667.1:p.Phe3198Leu | |
| XM_017009179.2:c.9594T>A | XP_016864668.1:p.Phe3198Leu | |
| XM_017009180.1:c.10689T>A | XP_016864669.1:p.Phe3563Leu | |
| XM_017009181.1:c.10689T>A | XP_016864670.1:p.Phe3563Leu | |
| XM_017009182.1:c.10689T>A | XP_016864671.1:p.Phe3563Leu | |
| XM_017009185.1:c.5778T>A | XP_016864674.1:p.Phe1926Leu | |
| XM_017009186.1:c.5331T>A | XP_016864675.1:p.Phe1777Leu | |
| XM_017009188.1:c.4668T>A | XP_016864677.1:p.Phe1556Leu | |
| XM_024454388.1:c.9594T>A | XP_024310156.1:p.Phe3198Leu | |
| XM_024454389.1:c.9183T>A | XP_024310157.1:p.Phe3061Leu | |
| NM_001369.3:c.10581T>A MANE Select | NP_001360.1:p.Phe3527Leu |