Linked Data
dbSNP Id:
rs1555976322
gnomAD v2:
X-100603205-G-A
gnomAD v3:
X-101348217-G-A
gnomAD v4:
X-101348217-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101348217G>A , CM000685.2:g.101348217G>A | GRCh38 |
| NC_000023.10:g.100603205G>A , CM000685.1:g.100603205G>A | GRCh37 |
| NC_000023.9:g.100489861G>A | NCBI36 |
| NG_009616.1:g.43008C>T , LRG_128:g.43008C>T | |
| NG_011734.1:g.5753C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372902.4:c.132+316C>T MANE Select | ENSP00000361993.3:n.132+316C>T | |
| ENST00000644112.2:c.*170C>T | ENSP00000494385.1:n.*170C>T | |
| ENST00000645279.1:c.*170C>T | ENSP00000494239.1:n.*170C>T | |
| ENST00000647480.1:n.359C>T | ||
| ENST00000372902.3:c.132+316C>T | ENSP00000361993.3:n.132+316C>T | |
| ENST00000480575.1:n.402C>T | ||
| NM_001145951.1:c.*170C>T | NP_001139423.1:n.*170C>T | |
| NM_004085.3:c.132+316C>T | NP_004076.1:n.132+316C>T | |
| NM_004085.4:c.132+316C>T MANE Select | NP_004076.1:n.132+316C>T | |
| NM_001145951.2:c.*170C>T | NP_001139423.1:n.*170C>T |