Linked Data
ClinVar Variation Id:
905605
ClinVar RCV Id:
RCV001154224
dbSNP Id:
rs756228394
ExAC:
5:13701403 G / A
gnomAD v2:
5-13701403-G-A
gnomAD v4:
5-13701294-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13701294G>A , CM000667.2:g.13701294G>A | GRCh38 |
| NC_000005.9:g.13701403G>A , CM000667.1:g.13701403G>A | GRCh37 |
| NC_000005.8:g.13754403G>A | NCBI36 |
| NG_013081.1:g.248187C>T | |
| NG_013081.2:g.248187C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.814C>T | ||
| ENST00000265104.5:c.13481C>T MANE Select | ENSP00000265104.4:p.Ala4494Val | |
| ENST00000681290.1:c.13436C>T | ENSP00000505288.1:p.Ala4479Val | |
| ENST00000265104.4:c.13481C>T | ENSP00000265104.4:p.Ala4494Val | |
| NM_001369.2:c.13481C>T | NP_001360.1:p.Ala4494Val | |
| XM_005248262.2:c.13436C>T | XP_005248319.1:p.Ala4479Val | |
| XM_005248262.3:c.13589C>T | XP_005248319.2:p.Ala4530Val | |
| XM_017009177.1:c.13169C>T | XP_016864666.1:p.Ala4390Val | |
| XM_017009178.1:c.12494C>T | XP_016864667.1:p.Ala4165Val | |
| XM_017009179.2:c.12494C>T | XP_016864668.1:p.Ala4165Val | |
| XM_017009185.1:c.8678C>T | XP_016864674.1:p.Ala2893Val | |
| XM_017009186.1:c.8231C>T | XP_016864675.1:p.Ala2744Val | |
| XM_017009188.1:c.7568C>T | XP_016864677.1:p.Ala2523Val | |
| XM_024454388.1:c.12494C>T | XP_024310156.1:p.Ala4165Val | |
| XM_024454389.1:c.12083C>T | XP_024310157.1:p.Ala4028Val | |
| NM_001369.3:c.13481C>T MANE Select | NP_001360.1:p.Ala4494Val |