Linked Data
dbSNP Id:
rs763588874
ExAC:
14:31354662 A / C
gnomAD v2:
14-31354662-A-C
gnomAD v4:
14-30885456-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.30885456A>C , CM000676.2:g.30885456A>C | GRCh38 |
| NC_000014.8:g.31354662A>C , CM000676.1:g.31354662A>C | GRCh37 |
| NC_000014.7:g.30424413A>C | NCBI36 |
| NG_008211.2:g.15922A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216361.9:c.991A>C | ENSP00000216361.5:p.Ile331Leu | |
| ENST00000396618.9:c.796A>C MANE Select | ENSP00000379862.3:p.Ile266Leu | |
| ENST00000555117.2:c.853A>C | ENSP00000493569.1:p.Ile285Leu | |
| ENST00000643575.1:c.796A>C | ENSP00000494838.1:p.Ile266Leu | |
| ENST00000643697.1:n.1098A>C | ||
| ENST00000644874.2:c.796A>C | ENSP00000496360.1:p.Ile266Leu | |
| ENST00000216361.8:c.796A>C | ENSP00000216361.4:p.Ile266Leu | |
| ENST00000396618.7:c.796A>C | ENSP00000379862.3:p.Ile266Leu | |
| ENST00000460581.6:c.460A>C | ENSP00000451713.1:p.Ile154Leu | |
| ENST00000468826.2:c.447A>C | ||
| ENST00000475087.5:c.796A>C | ENSP00000451528.1:p.Ile266Leu | |
| ENST00000555881.5:c.442A>C | ENSP00000452569.1:p.Ile148Leu | |
| ENST00000557065.1:c.578A>C | ENSP00000451629.1:n.578A>C | |
| NM_001135058.1:c.796A>C | NP_001128530.1:p.Ile266Leu | |
| NM_004086.2:c.796A>C | NP_004077.1:p.Ile266Leu | |
| NR_038356.1:n.1409T>G | ||
| XM_011536539.1:c.796A>C | XP_011534841.1:p.Ile266Leu | |
| NM_001347720.1:c.991A>C | NP_001334649.1:p.Ile331Leu | |
| XM_017021071.1:c.991A>C | XP_016876560.1:p.Ile331Leu | |
| XM_024449506.1:c.853A>C | XP_024305274.1:p.Ile285Leu | |
| NM_004086.3:c.796A>C MANE Select | NP_004077.1:p.Ile266Leu | |
| NM_001135058.2:c.796A>C | NP_001128530.1:p.Ile266Leu | |
| NM_001347720.2:c.991A>C | NP_001334649.1:p.Ile331Leu |