Linked Data
ClinVar Variation Id:
732080
ClinVar RCV Id:
RCV000907154
dbSNP Id:
rs192373432
ExAC:
X:47446040 C / T
gnomAD v2:
X-47446040-C-T
gnomAD v3:
X-47586641-C-T
gnomAD v4:
X-47586641-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47586641C>T , CM000685.2:g.47586641C>T | GRCh38 |
| NC_000023.10:g.47446040C>T , CM000685.1:g.47446040C>T | GRCh37 |
| NC_000023.9:g.47330984C>T | NCBI36 |
| NG_008437.1:g.38217G>A | |
| NG_012533.1:g.9351C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218388.9:c.574C>T (TIMP1) MANE Select | ENSP00000218388.4:p.Arg192Trp | |
| ENST00000295987.13:c.775-9140G>A (SYN1) MANE Select | ENSP00000295987.7:n.775-9140G>A | |
| ENST00000340666.5:c.775-9140G>A (SYN1) | ENSP00000343206.4:n.775-9140G>A | |
| ENST00000218388.8:c.574C>T (TIMP1) | ENSP00000218388.4:p.Arg192Trp | |
| ENST00000295987.11:c.775-9140G>A (SYN1) | ENSP00000295987.7:n.775-9140G>A | |
| ENST00000340666.4:c.775-9140G>A (SYN1) | ENSP00000343206.4:n.775-9140G>A | |
| ENST00000377017.5:c.382C>T (TIMP1) | ENSP00000366216.1:p.Arg128Trp | |
| ENST00000445623.1:c.447C>T (TIMP1) | ||
| NM_003254.2:c.574C>T (TIMP1) | NP_003245.1:p.Arg192Trp | |
| NM_006950.3:c.775-9140G>A (SYN1) MANE Select | NP_008881.2:n.775-9140G>A | |
| NM_133499.2:c.775-9140G>A (SYN1) | NP_598006.1:n.775-9140G>A | |
| NM_003254.3:c.574C>T (TIMP1) MANE Select | NP_003245.1:p.Arg192Trp |