Linked Data
ClinVar Variation Id:
1375655
ClinVar RCV Id:
RCV001871048
dbSNP Id:
rs774682860
ExAC:
X:132887859 T / G
gnomAD v2:
X-132887859-T-G
gnomAD v4:
X-133753832-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.133753832T>G , CM000685.2:g.133753832T>G | GRCh38 |
| NC_000023.10:g.132887859T>G , CM000685.1:g.132887859T>G | GRCh37 |
| NC_000023.9:g.132715525T>G | NCBI36 |
| NG_009286.1:g.236808A>C , LRG_505:g.236808A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684880.1:c.*270A>C | ENSP00000510280.1:n.*270A>C | |
| ENST00000689310.1:c.634A>C | ENSP00000510438.1:p.Ile212Leu | |
| ENST00000370818.8:c.682A>C MANE Select | ENSP00000359854.3:p.Ile228Leu | |
| ENST00000394299.7:c.682A>C | ENSP00000377836.2:p.Ile228Leu | |
| ENST00000370818.7:c.682A>C | ENSP00000359854.3:p.Ile228Leu | |
| ENST00000394299.6:c.682A>C | ENSP00000377836.2:p.Ile228Leu | |
| ENST00000631057.2:c.520A>C | ENSP00000486325.1:p.Ile174Leu | |
| NM_001164617.1:c.682A>C | NP_001158089.1:p.Ile228Leu | |
| NM_001164618.1:c.634A>C | NP_001158090.1:p.Ile212Leu | |
| NM_001164619.1:c.520A>C | NP_001158091.1:p.Ile174Leu | |
| NM_004484.3:c.682A>C , LRG_505t1:c.682A>C | NP_004475.1:p.Ile228Leu | |
| XM_017029413.2:c.682A>C | XP_016884902.1:p.Ile228Leu | |
| NM_001164617.2:c.682A>C | NP_001158089.1:p.Ile228Leu | |
| NM_001164618.2:c.634A>C | NP_001158090.1:p.Ile212Leu | |
| NM_001164619.2:c.520A>C | NP_001158091.1:p.Ile174Leu | |
| NM_004484.4:c.682A>C MANE Select | NP_004475.1:p.Ile228Leu |