Linked Data
gnomAD v4:
1-173917330-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173917330T>C , CM000663.2:g.173917330T>C | GRCh38 |
| NC_000001.10:g.173886468T>C , CM000663.1:g.173886468T>C | GRCh37 |
| NC_000001.9:g.172153091T>C | NCBI36 |
| NG_012462.1:g.5049A>G , LRG_577:g.5049A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.3:c.-71A>G | ENSP00000356671.3:n.-71A>G | |
| ENST00000617423.4:c.-71A>G | ENSP00000478688.1:n.-71A>G | |
| NM_000488.3:c.-71A>G , LRG_577t1:c.-71A>G | NP_000479.1:n.-71A>G | |
| XM_005245198.2:c.-384A>G | XP_005245255.1:n.-384A>G |