Linked Data
dbSNP Id:
rs775276221
ExAC:
7:117251826 T / C
gnomAD v2:
7-117251826-T-C
gnomAD v4:
7-117611772-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117611772T>C , CM000669.2:g.117611772T>C | GRCh38 |
| NC_000007.13:g.117251826T>C , CM000669.1:g.117251826T>C | GRCh37 |
| NC_000007.12:g.117039062T>C | NCBI36 |
| NG_016465.4:g.150989T>C , LRG_663:g.150989T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3331T>C | ENSP00000497673.2:p.Phe1111Leu | |
| ENST00000647978.2:c.*3045T>C | ENSP00000497658.1:n.*3045T>C | |
| ENST00000649781.2:c.3148T>C | ENSP00000497203.1:p.Phe1050Leu | |
| ENST00000685018.2:c.3331T>C | ENSP00000510194.2:p.Phe1111Leu | |
| ENST00000687278.2:c.3331T>C | ENSP00000509593.2:p.Phe1111Leu | |
| ENST00000699585.1:c.3331T>C | ENSP00000514456.1:p.Phe1111Leu | |
| ENST00000699598.1:c.3331T>C | ENSP00000514467.1:p.Phe1111Leu | |
| ENST00000699599.1:c.3331T>C | ENSP00000514468.1:p.Phe1111Leu | |
| ENST00000699600.1:c.3331T>C | ENSP00000514469.1:p.Phe1111Leu | |
| ENST00000699601.1:c.*1631T>C | ENSP00000514470.1:n.*1631T>C | |
| ENST00000699602.1:c.3331T>C | ENSP00000514471.1:p.Phe1111Leu | |
| ENST00000699604.1:c.*3155T>C | ENSP00000514472.1:n.*3155T>C | |
| ENST00000699605.1:c.2905T>C | ENSP00000514473.1:p.Phe969Leu | |
| ENST00000685018.1:c.79T>C | ENSP00000510194.1:p.Phe27Leu | |
| ENST00000687278.1:c.922T>C | ENSP00000509593.1:p.Phe308Leu | |
| ENST00000003084.11:c.3331T>C MANE Select | ENSP00000003084.6:p.Phe1111Leu | |
| ENST00000647720.1:c.981T>C | ||
| ENST00000648260.1:c.2113T>C | ENSP00000497957.1:p.Phe705Leu | |
| ENST00000649406.1:c.3148T>C | ENSP00000497965.1:p.Phe1050Leu | |
| ENST00000649781.1:c.3148T>C | ENSP00000497203.1:p.Phe1050Leu | |
| ENST00000003084.10:c.3331T>C | ENSP00000003084.6:p.Phe1111Leu | |
| ENST00000426809.5:c.3241T>C | ENSP00000389119.1:p.Phe1081Leu | |
| ENST00000468795.1:c.156T>C | ||
| NM_000492.3:c.3331T>C , LRG_663t1:c.3331T>C | NP_000483.3:p.Phe1111Leu | |
| XM_011515751.1:c.3421T>C | XP_011514053.1:p.Phe1141Leu | |
| XM_011515752.1:c.3421T>C | XP_011514054.1:p.Phe1141Leu | |
| XM_011515753.1:c.3088T>C | XP_011514055.1:p.Phe1030Leu | |
| XM_011515754.1:c.3088T>C | XP_011514056.1:p.Phe1030Leu | |
| NM_000492.4:c.3331T>C MANE Select | NP_000483.3:p.Phe1111Leu |