Linked Data
dbSNP Id:
rs16845607
gnomAD v2:
1-173173617-G-A
gnomAD v3:
1-173204478-G-A
gnomAD v4:
1-173204478-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173204478G>A , CM000663.2:g.173204478G>A | GRCh38 |
| NC_000001.10:g.173173617G>A , CM000663.1:g.173173617G>A | GRCh37 |
| NC_000001.9:g.171440240G>A | NCBI36 |
| NG_011477.1:g.7855C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281834.4:c.153+2546C>T MANE Select | ENSP00000281834.3:n.153+2546C>T | |
| ENST00000281834.3:c.153+2546C>T | ENSP00000281834.3:n.153+2546C>T | |
| ENST00000367718.5:c.3+833C>T | ENSP00000356691.1:n.3+833C>T | |
| ENST00000488053.1:n.414+833C>T | ||
| NM_001297562.1:c.3+833C>T | NP_001284491.1:n.3+833C>T | |
| NM_003326.4:c.153+2546C>T | NP_003317.1:n.153+2546C>T | |
| XM_011509964.1:c.225+2546C>T | XP_011508266.1:n.225+2546C>T | |
| XM_011509964.2:c.441+2546C>T | XP_011508266.2:n.441+2546C>T | |
| XM_017002228.1:c.249+1009C>T | XP_016857717.1:n.249+1009C>T | |
| XM_017002229.1:c.186+2546C>T | XP_016857718.1:n.186+2546C>T | |
| XM_017002230.1:c.180+2546C>T | XP_016857719.1:n.180+2546C>T | |
| NM_003326.5:c.153+2546C>T MANE Select | NP_003317.1:n.153+2546C>T | |
| NM_001297562.2:c.3+833C>T | NP_001284491.1:n.3+833C>T |