Linked Data
dbSNP Id:
rs180684739
gnomAD v2:
1-162085754-C-T
gnomAD v3:
1-162115964-C-T
gnomAD v4:
1-162115964-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.162115964C>T , CM000663.2:g.162115964C>T | GRCh38 |
| NC_000001.10:g.162085754C>T , CM000663.1:g.162085754C>T | GRCh37 |
| NC_000001.9:g.160352378C>T | NCBI36 |
| NG_015979.1:g.51174C>T | |
| NG_015979.2:g.51174C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361897.10:c.106-38441C>T MANE Select | ENSP00000355133.5:n.106-38441C>T | |
| ENST00000361897.9:c.106-38441C>T | ENSP00000355133.5:n.106-38441C>T | |
| ENST00000430120.3:c.106-38441C>T | ENSP00000396713.3:n.106-38441C>T | |
| ENST00000530878.5:c.106-38441C>T | ENSP00000431586.1:n.106-38441C>T | |
| NM_001164757.1:c.106-38441C>T | NP_001158229.1:n.106-38441C>T | |
| NM_014697.2:c.106-38441C>T | NP_055512.1:n.106-38441C>T | |
| XR_922217.1:n.884-2062G>A | ||
| XR_922219.1:n.713-2062G>A | ||
| XR_922221.1:n.713-9216G>A | ||
| XR_002958375.1:n.3842-2062G>A | ||
| XR_002958378.1:n.3671-2062G>A | ||
| NM_014697.3:c.106-38441C>T MANE Select | NP_055512.1:n.106-38441C>T | |
| NM_001164757.2:c.106-38441C>T | NP_001158229.1:n.106-38441C>T |