Linked Data
ClinVar Variation Id:
1157763
ClinVar RCV Id:
RCV001500905
dbSNP Id:
rs776234359
gnomAD v4:
X-133985266-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.133985266C>G , CM000685.2:g.133985266C>G | GRCh38 |
| NC_000023.10:g.133119293C>G , CM000685.1:g.133119293C>G | GRCh37 |
| NC_000023.9:g.132946959C>G | NCBI36 |
| NG_009286.1:g.5374G>C , LRG_505:g.5374G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684880.1:c.175+9G>C | ENSP00000510280.1:n.175+9G>C | |
| ENST00000689310.1:c.175+9G>C | ENSP00000510438.1:n.175+9G>C | |
| ENST00000692630.1:n.305+9G>C | ||
| ENST00000370818.8:c.175+9G>C MANE Select | ENSP00000359854.3:n.175+9G>C | |
| ENST00000394299.7:c.175+9G>C | ENSP00000377836.2:n.175+9G>C | |
| ENST00000370818.7:c.175+9G>C | ENSP00000359854.3:n.175+9G>C | |
| ENST00000394299.6:c.175+9G>C | ENSP00000377836.2:n.175+9G>C | |
| ENST00000631057.2:c.175+9G>C | ENSP00000486325.1:n.175+9G>C | |
| NM_001164617.1:c.175+9G>C | NP_001158089.1:n.175+9G>C | |
| NM_001164618.1:c.175+9G>C | NP_001158090.1:n.175+9G>C | |
| NM_001164619.1:c.175+9G>C | NP_001158091.1:n.175+9G>C | |
| NM_004484.3:c.175+9G>C , LRG_505t1:c.175+9G>C | NP_004475.1:n.175+9G>C | |
| XM_017029413.2:c.175+9G>C | XP_016884902.1:n.175+9G>C | |
| NM_001164617.2:c.175+9G>C | NP_001158089.1:n.175+9G>C | |
| NM_001164618.2:c.175+9G>C | NP_001158090.1:n.175+9G>C | |
| NM_001164619.2:c.175+9G>C | NP_001158091.1:n.175+9G>C | |
| NM_004484.4:c.175+9G>C MANE Select | NP_004475.1:n.175+9G>C |