Linked Data
dbSNP Id:
rs117776073
gnomAD v2:
1-51175101-T-G
gnomAD v3:
1-50709429-T-G
gnomAD v4:
1-50709429-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.50709429T>G , CM000663.2:g.50709429T>G | GRCh38 |
| NC_000001.10:g.51175101T>G , CM000663.1:g.51175101T>G | GRCh37 |
| NC_000001.9:g.50947689T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396153.7:c.552-3538A>C MANE Select | ENSP00000379457.2:n.552-3538A>C | |
| ENST00000371778.5:c.528-3538A>C | ENSP00000360843.5:n.528-3538A>C | |
| ENST00000396153.6:c.552-3538A>C | ENSP00000379457.2:n.552-3538A>C | |
| ENST00000487898.1:n.574-3538A>C | ||
| NM_007051.2:c.552-3538A>C | NP_008982.1:n.552-3538A>C | |
| XM_017000136.1:c.225-3538A>C | XP_016855625.1:n.225-3538A>C | |
| XM_024452734.1:c.528-3538A>C | XP_024308502.1:n.528-3538A>C | |
| XM_024452736.1:c.225-3538A>C | XP_024308504.1:n.225-3538A>C | |
| NM_007051.3:c.552-3538A>C MANE Select | NP_008982.1:n.552-3538A>C |