Linked Data
ClinVar Variation Id:
376424
ClinVar RCV Id:
RCV000418253
RCV000420626
RCV000421948
RCV000423047
RCV000428507
RCV000429608
RCV000428228
RCV000433338
RCV000434990
RCV000438226
RCV000439833
RCV000439579
dbSNP Id:
rs1057519896
gnomAD v4:
4-152326136-C-A
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.152326136C>A , CM000666.2:g.152326136C>A | GRCh38 |
| NC_000004.11:g.153247288C>A , CM000666.1:g.153247288C>A | GRCh37 |
| NC_000004.10:g.153466738C>A | NCBI36 |
| NG_029466.1:g.213885G>T | |
| NG_029466.2:g.215738G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703551.1:c.*207G>T | ENSP00000515367.1:n.*207G>T | |
| ENST00000703552.1:c.1013G>T | ENSP00000515368.1:p.Arg338Leu | |
| ENST00000703553.1:c.1514G>T | ENSP00000515369.1:p.Arg505Leu | |
| ENST00000703554.1:c.*1161G>T | ENSP00000515370.1:n.*1161G>T | |
| ENST00000703555.1:c.*490G>T | ENSP00000515371.1:n.*490G>T | |
| ENST00000281708.10:c.1514G>T MANE Select | ENSP00000281708.3:p.Arg505Leu | |
| ENST00000296555.11:c.1160G>T | ENSP00000296555.4:p.Arg387Leu | |
| ENST00000393956.9:c.1274G>T | ENSP00000377528.4:p.Arg425Leu | |
| ENST00000603548.6:c.1514G>T | ENSP00000474725.1:p.Arg505Leu | |
| ENST00000647183.1:n.1063G>T | ||
| ENST00000263981.9:c.1274G>T | ENSP00000263981.4:p.Arg425Leu | |
| ENST00000281708.8:c.1514G>T | ENSP00000281708.3:p.Arg505Leu | |
| ENST00000296555.9:c.1160G>T | ENSP00000296555.4:p.Arg387Leu | |
| ENST00000393956.7:c.986G>T | ENSP00000377528.3:p.Arg329Leu | |
| ENST00000603548.5:c.1514G>T | ENSP00000474725.1:p.Arg505Leu | |
| ENST00000603821.1:n.962G>T | ||
| ENST00000603841.1:c.1514G>T | ENSP00000474971.1:p.Arg505Leu | |
| NM_001013415.1:c.1160G>T | NP_001013433.1:p.Arg387Leu | |
| NM_018315.4:c.1274G>T | NP_060785.2:p.Arg425Leu | |
| NM_033632.3:c.1514G>T | NP_361014.1:p.Arg505Leu | |
| XM_011532083.1:c.1514G>T | XP_011530385.1:p.Arg505Leu | |
| XM_011532084.1:c.1514G>T | XP_011530386.1:p.Arg505Leu | |
| XM_011532085.1:c.1514G>T | XP_011530387.1:p.Arg505Leu | |
| XM_011532086.1:c.1430G>T | XP_011530388.1:p.Arg477Leu | |
| XM_011532087.1:c.1430G>T | XP_011530389.1:p.Arg477Leu | |
| XM_011532088.1:c.1013G>T | XP_011530390.1:p.Arg338Leu | |
| NM_001013415.2:c.1160G>T | NP_001013433.1:p.Arg387Leu | |
| NM_001349798.2:c.1514G>T MANE Select | NP_001336727.1:p.Arg505Leu | |
| NM_018315.5:c.1274G>T | NP_060785.2:p.Arg425Leu | |
| XM_011532084.2:c.1514G>T | XP_011530386.1:p.Arg505Leu | |
| XM_011532085.2:c.1514G>T | XP_011530387.1:p.Arg505Leu | |
| XM_011532086.2:c.1430G>T | XP_011530388.1:p.Arg477Leu | |
| XM_011532087.2:c.1430G>T | XP_011530389.1:p.Arg477Leu | |
| XM_011532088.2:c.1013G>T | XP_011530390.1:p.Arg338Leu | |
| XM_024454121.1:c.1514G>T | XP_024309889.1:p.Arg505Leu | |
| XM_024454122.1:c.1514G>T | XP_024309890.1:p.Arg505Leu | |
| XM_024454123.1:c.1514G>T | XP_024309891.1:p.Arg505Leu | |
| XM_024454124.1:c.1514G>T | XP_024309892.1:p.Arg505Leu | |
| XM_024454125.1:c.1430G>T | XP_024309893.1:p.Arg477Leu | |
| XM_024454126.1:c.1013G>T | XP_024309894.1:p.Arg338Leu |