Linked Data
ClinVar Variation Id:
407243
ClinVar RCV Id:
RCV000467947
dbSNP Id:
rs369714206
ExAC:
5:13708396 A / G
gnomAD v2:
5-13708396-A-G
gnomAD v3:
5-13708287-A-G
gnomAD v4:
5-13708287-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13708287A>G , CM000667.2:g.13708287A>G | GRCh38 |
| NC_000005.9:g.13708396A>G , CM000667.1:g.13708396A>G | GRCh37 |
| NC_000005.8:g.13761396A>G | NCBI36 |
| NG_013081.1:g.241194T>C | |
| NG_013081.2:g.241194T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.507T>C | ||
| ENST00000265104.5:c.13174T>C MANE Select | ENSP00000265104.4:p.Phe4392Leu | |
| ENST00000681290.1:c.13129T>C | ENSP00000505288.1:p.Phe4377Leu | |
| ENST00000265104.4:c.13174T>C | ENSP00000265104.4:p.Phe4392Leu | |
| NM_001369.2:c.13174T>C | NP_001360.1:p.Phe4392Leu | |
| XM_005248262.2:c.13129T>C | XP_005248319.1:p.Phe4377Leu | |
| XM_005248262.3:c.13282T>C | XP_005248319.2:p.Phe4428Leu | |
| XM_017009177.1:c.12862T>C | XP_016864666.1:p.Phe4288Leu | |
| XM_017009178.1:c.12187T>C | XP_016864667.1:p.Phe4063Leu | |
| XM_017009179.2:c.12187T>C | XP_016864668.1:p.Phe4063Leu | |
| XM_017009185.1:c.8371T>C | XP_016864674.1:p.Phe2791Leu | |
| XM_017009186.1:c.7924T>C | XP_016864675.1:p.Phe2642Leu | |
| XM_017009188.1:c.7261T>C | XP_016864677.1:p.Phe2421Leu | |
| XM_024454388.1:c.12187T>C | XP_024310156.1:p.Phe4063Leu | |
| XM_024454389.1:c.11776T>C | XP_024310157.1:p.Phe3926Leu | |
| NM_001369.3:c.13174T>C MANE Select | NP_001360.1:p.Phe4392Leu |