Linked Data
ClinVar Variation Id:
525227
ClinVar RCV Id:
RCV000629276
dbSNP Id:
rs149892711
ExAC:
5:13735316 G / C
gnomAD v2:
5-13735316-G-C
gnomAD v3:
5-13735207-G-C
gnomAD v4:
5-13735207-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13735207G>C , CM000667.2:g.13735207G>C | GRCh38 |
| NC_000005.9:g.13735316G>C , CM000667.1:g.13735316G>C | GRCh37 |
| NC_000005.8:g.13788316G>C | NCBI36 |
| NG_013081.1:g.214274C>G | |
| NG_013081.2:g.214274C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265104.5:c.11685C>G MANE Select | ENSP00000265104.4:p.Phe3895Leu | |
| ENST00000681290.1:c.11640C>G | ENSP00000505288.1:p.Phe3880Leu | |
| ENST00000265104.4:c.11685C>G | ENSP00000265104.4:p.Phe3895Leu | |
| NM_001369.2:c.11685C>G | NP_001360.1:p.Phe3895Leu | |
| XM_005248262.2:c.11640C>G | XP_005248319.1:p.Phe3880Leu | |
| XM_005248262.3:c.11793C>G | XP_005248319.2:p.Phe3931Leu | |
| XM_017009177.1:c.11793C>G | XP_016864666.1:p.Phe3931Leu | |
| XM_017009178.1:c.10698C>G | XP_016864667.1:p.Phe3566Leu | |
| XM_017009179.2:c.10698C>G | XP_016864668.1:p.Phe3566Leu | |
| XM_017009180.1:c.11793C>G | XP_016864669.1:p.Phe3931Leu | |
| XM_017009181.1:c.11793C>G | XP_016864670.1:p.Phe3931Leu | |
| XM_017009185.1:c.6882C>G | XP_016864674.1:p.Phe2294Leu | |
| XM_017009186.1:c.6435C>G | XP_016864675.1:p.Phe2145Leu | |
| XM_017009188.1:c.5772C>G | XP_016864677.1:p.Phe1924Leu | |
| XM_024454388.1:c.10698C>G | XP_024310156.1:p.Phe3566Leu | |
| XM_024454389.1:c.10287C>G | XP_024310157.1:p.Phe3429Leu | |
| NM_001369.3:c.11685C>G MANE Select | NP_001360.1:p.Phe3895Leu |