Linked Data
dbSNP Id:
rs775315777
ExAC:
15:67457607 G / C
gnomAD v2:
15-67457607-G-C
gnomAD v4:
15-67165269-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.67165269G>C , CM000677.2:g.67165269G>C | GRCh38 |
| NC_000015.9:g.67457607G>C , CM000677.1:g.67457607G>C | GRCh37 |
| NC_000015.8:g.65244661G>C | NCBI36 |
| NG_011990.1:g.104413G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558739.2:c.102G>C | ENSP00000453684.2:p.Leu34Phe | |
| ENST00000559460.6:c.102G>C | ENSP00000453082.2:p.Leu34Phe | |
| ENST00000560424.2:c.417G>C | ENSP00000455540.2:p.Leu139Phe | |
| ENST00000327367.9:c.417G>C MANE Select | ENSP00000332973.4:p.Leu139Phe | |
| ENST00000679624.1:c.102G>C | ENSP00000505445.1:p.Leu34Phe | |
| ENST00000681239.1:c.102G>C | ENSP00000505641.1:p.Leu34Phe | |
| ENST00000327367.8:c.417G>C | ENSP00000332973.4:p.Leu139Phe | |
| ENST00000439724.7:c.285G>C | ENSP00000401133.3:p.Leu95Phe | |
| ENST00000540846.6:c.102G>C | ENSP00000437757.2:p.Leu34Phe | |
| ENST00000558739.1:c.102G>C | ENSP00000453684.1:p.Leu34Phe | |
| ENST00000558894.5:c.102G>C | ENSP00000458060.1:p.Leu34Phe | |
| ENST00000559460.5:c.102G>C | ENSP00000453082.1:p.Leu34Phe | |
| ENST00000559937.1:n.267G>C | ||
| ENST00000560175.5:c.102G>C | ENSP00000455095.1:p.Leu34Phe | |
| NM_001145102.1:c.102G>C | NP_001138574.1:p.Leu34Phe | |
| NM_001145103.1:c.285G>C | NP_001138575.1:p.Leu95Phe | |
| NM_005902.3:c.417G>C | NP_005893.1:p.Leu139Phe | |
| XM_011521559.1:c.400+181G>C | XP_011519861.1:n.400+181G>C | |
| XM_011521560.1:c.270G>C | XP_011519862.1:p.Leu90Phe | |
| XM_011521559.3:c.400+181G>C | XP_011519861.1:n.400+181G>C | |
| NM_005902.4:c.417G>C MANE Select | NP_005893.1:p.Leu139Phe | |
| NM_001145102.2:c.102G>C | NP_001138574.1:p.Leu34Phe | |
| NM_001145103.2:c.285G>C | NP_001138575.1:p.Leu95Phe |