Linked Data
dbSNP Id:
rs747411234
ExAC:
5:13708278 G / A
gnomAD v2:
5-13708278-G-A
gnomAD v4:
5-13708169-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13708169G>A , CM000667.2:g.13708169G>A | GRCh38 |
| NC_000005.9:g.13708278G>A , CM000667.1:g.13708278G>A | GRCh37 |
| NC_000005.8:g.13761278G>A | NCBI36 |
| NG_013081.1:g.241312C>T | |
| NG_013081.2:g.241312C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.625C>T | ||
| ENST00000265104.5:c.13292C>T MANE Select | ENSP00000265104.4:p.Ala4431Val | |
| ENST00000681290.1:c.13247C>T | ENSP00000505288.1:p.Ala4416Val | |
| ENST00000265104.4:c.13292C>T | ENSP00000265104.4:p.Ala4431Val | |
| NM_001369.2:c.13292C>T | NP_001360.1:p.Ala4431Val | |
| XM_005248262.2:c.13247C>T | XP_005248319.1:p.Ala4416Val | |
| XM_005248262.3:c.13400C>T | XP_005248319.2:p.Ala4467Val | |
| XM_017009177.1:c.12980C>T | XP_016864666.1:p.Ala4327Val | |
| XM_017009178.1:c.12305C>T | XP_016864667.1:p.Ala4102Val | |
| XM_017009179.2:c.12305C>T | XP_016864668.1:p.Ala4102Val | |
| XM_017009185.1:c.8489C>T | XP_016864674.1:p.Ala2830Val | |
| XM_017009186.1:c.8042C>T | XP_016864675.1:p.Ala2681Val | |
| XM_017009188.1:c.7379C>T | XP_016864677.1:p.Ala2460Val | |
| XM_024454388.1:c.12305C>T | XP_024310156.1:p.Ala4102Val | |
| XM_024454389.1:c.11894C>T | XP_024310157.1:p.Ala3965Val | |
| NM_001369.3:c.13292C>T MANE Select | NP_001360.1:p.Ala4431Val |