Linked Data
ClinVar Variation Id:
521624
ClinVar RCV Id:
RCV000622332
dbSNP Id:
rs1554101092
gnomAD v4:
5-162151741-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.162151741G>A , CM000667.2:g.162151741G>A | GRCh38 |
| NC_000005.9:g.161578747G>A , CM000667.1:g.161578747G>A | GRCh37 |
| NC_000005.8:g.161511325G>A | NCBI36 |
| NG_009290.1:g.89100G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356592.8:c.1141G>A | ||
| ENST00000361925.9:c.1249-1352G>A | ENSP00000354651.5:n.1249-1352G>A | |
| ENST00000523372.2:c.1212-1352G>A | ||
| ENST00000638253.1:n.394G>A | ||
| ENST00000638552.1:c.844-1352G>A | ENSP00000491763.1:n.844-1352G>A | |
| ENST00000638660.1:c.855G>A | ENSP00000492869.1:p.Met285Ile | |
| ENST00000638772.1:c.*2398G>A | ENSP00000491557.1:n.*2398G>A | |
| ENST00000638877.1:c.1017G>A | ||
| ENST00000639046.1:c.520-1352G>A | ENSP00000492659.1:n.520-1352G>A | |
| ENST00000639111.2:c.1129-1352G>A | ENSP00000492125.2:n.1129-1352G>A | |
| ENST00000639213.2:c.1140G>A MANE Select | ENSP00000491909.2:p.Met380Ile | |
| ENST00000639278.1:c.1803G>A | ENSP00000491958.1:n.1803G>A | |
| ENST00000639384.1:c.1140G>A | ENSP00000491240.1:p.Met380Ile | |
| ENST00000639424.1:c.*340G>A | ENSP00000491245.1:n.*340G>A | |
| ENST00000639683.1:c.1074G>A | ENSP00000492581.1:p.Met358Ile | |
| ENST00000639975.1:c.1063-1352G>A | ENSP00000492096.1:n.1063-1352G>A | |
| ENST00000640500.1:n.427-1352G>A | ||
| ENST00000640739.1:n.6087G>A | ||
| ENST00000640910.1:c.578G>A | ||
| ENST00000640985.1:c.1053G>A | ENSP00000492293.1:p.Met351Ile | |
| ENST00000641017.1:c.1129-1259G>A | ENSP00000493461.1:n.1129-1259G>A | |
| ENST00000356592.7:c.1140G>A | ENSP00000349000.3:p.Met380Ile | |
| ENST00000361925.8:c.1129-1352G>A | ENSP00000354651.4:n.1129-1352G>A | |
| ENST00000414552.6:c.1260G>A | ENSP00000410732.2:p.Met420Ile | |
| ENST00000522990.5:c.*731-1352G>A | ENSP00000430732.1:n.*731-1352G>A | |
| ENST00000523372.1:c.1250-1352G>A | ENSP00000430124.1:n.1250-1352G>A | |
| NM_000816.3:c.1129-1352G>A | NP_000807.2:n.1129-1352G>A | |
| NM_198903.2:c.1260G>A | NP_944493.2:p.Met420Ile | |
| NM_198904.2:c.1140G>A | NP_944494.1:p.Met380Ile | |
| NM_001375339.1:c.1131G>A | NP_001362268.1:p.Met377Ile | |
| NM_001375340.1:c.934G>A | NP_001362269.1:p.Val312Ile | |
| NM_001375341.1:c.1137G>A | NP_001362270.1:p.Met379Ile | |
| NM_001375342.1:c.1126-1352G>A | NP_001362271.1:n.1126-1352G>A | |
| NM_001375343.1:c.1249-1352G>A | NP_001362272.1:n.1249-1352G>A | |
| NM_001375344.1:c.1179G>A | NP_001362273.1:p.Met393Ile | |
| NM_001375345.1:c.1063-1352G>A | NP_001362274.1:n.1063-1352G>A | |
| NM_001375346.1:c.1074G>A | NP_001362275.1:p.Met358Ile | |
| NM_001375347.1:c.1053G>A | NP_001362276.1:p.Met351Ile | |
| NM_001375348.1:c.709-1352G>A | NP_001362277.1:n.709-1352G>A | |
| NM_001375349.1:c.844-1352G>A | NP_001362278.1:n.844-1352G>A | |
| NM_001375350.1:c.720G>A | NP_001362279.1:p.Met240Ile | |
| NM_198904.3:c.1140G>A | NP_944494.1:p.Met380Ile | |
| NM_198904.4:c.1140G>A MANE Select | NP_944494.1:p.Met380Ile |