Linked Data
dbSNP Id:
rs558446428
gnomAD v2:
1-173156197-A-C
gnomAD v3:
1-173187058-A-C
gnomAD v4:
1-173187058-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173187058A>C , CM000663.2:g.173187058A>C | GRCh38 |
| NC_000001.10:g.173156197A>C , CM000663.1:g.173156197A>C | GRCh37 |
| NC_000001.9:g.171422820A>C | NCBI36 |
| NG_011477.1:g.25275T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281834.4:c.203-193T>G MANE Select | ENSP00000281834.3:n.203-193T>G | |
| ENST00000281834.3:c.203-193T>G | ENSP00000281834.3:n.203-193T>G | |
| ENST00000367718.5:c.53-193T>G | ENSP00000356691.1:n.53-193T>G | |
| NM_001297562.1:c.53-193T>G | NP_001284491.1:n.53-193T>G | |
| NM_003326.4:c.203-193T>G | NP_003317.1:n.203-193T>G | |
| XM_011509964.1:c.275-193T>G | XP_011508266.1:n.275-193T>G | |
| XM_011509964.2:c.491-193T>G | XP_011508266.2:n.491-193T>G | |
| XM_017002228.1:c.299-193T>G | XP_016857717.1:n.299-193T>G | |
| XM_017002229.1:c.236-193T>G | XP_016857718.1:n.236-193T>G | |
| XM_017002230.1:c.230-193T>G | XP_016857719.1:n.230-193T>G | |
| NM_003326.5:c.203-193T>G MANE Select | NP_003317.1:n.203-193T>G | |
| NM_001297562.2:c.53-193T>G | NP_001284491.1:n.53-193T>G |