Linked Data
ClinVar Variation Id:
454739
ClinVar RCV Id:
RCV000532779
dbSNP Id:
rs138045391
ExAC:
5:13716796 C / A
gnomAD v2:
5-13716796-C-A
gnomAD v3:
5-13716687-C-A
gnomAD v4:
5-13716687-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13716687C>A , CM000667.2:g.13716687C>A | GRCh38 |
| NC_000005.9:g.13716796C>A , CM000667.1:g.13716796C>A | GRCh37 |
| NC_000005.8:g.13769796C>A | NCBI36 |
| NG_013081.1:g.232794G>T | |
| NG_013081.2:g.232794G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.12709G>T MANE Select | ENSP00000265104.4:p.Val4237Phe | |
| ENST00000681290.1:c.12664G>T | ENSP00000505288.1:p.Val4222Phe | |
| ENST00000265104.4:c.12709G>T | ENSP00000265104.4:p.Val4237Phe | |
| NM_001369.2:c.12709G>T | NP_001360.1:p.Val4237Phe | |
| XM_005248262.2:c.12664G>T | XP_005248319.1:p.Val4222Phe | |
| XM_005248262.3:c.12817G>T | XP_005248319.2:p.Val4273Phe | |
| XM_017009177.1:c.12813+628G>T | XP_016864666.1:n.12813+628G>T | |
| XM_017009178.1:c.11722G>T | XP_016864667.1:p.Val3908Phe | |
| XM_017009179.2:c.11722G>T | XP_016864668.1:p.Val3908Phe | |
| XM_017009185.1:c.7906G>T | XP_016864674.1:p.Val2636Phe | |
| XM_017009186.1:c.7459G>T | XP_016864675.1:p.Val2487Phe | |
| XM_017009188.1:c.6796G>T | XP_016864677.1:p.Val2266Phe | |
| XM_024454388.1:c.11722G>T | XP_024310156.1:p.Val3908Phe | |
| XM_024454389.1:c.11311G>T | XP_024310157.1:p.Val3771Phe | |
| NM_001369.3:c.12709G>T MANE Select | NP_001360.1:p.Val4237Phe |