Linked Data
gnomAD v4:
9-129814024-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814024T>C , CM000671.2:g.129814024T>C | GRCh38 |
| NC_000009.11:g.132576303T>C , CM000671.1:g.132576303T>C | GRCh37 |
| NC_000009.10:g.131616124T>C | NCBI36 |
| NG_008049.1:g.15139A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.947A>G MANE Select | ENSP00000345719.4:p.Asp316Gly | |
| ENST00000651202.1:c.*215A>G | ENSP00000498222.1:n.*215A>G | |
| ENST00000351698.4:c.947A>G | ENSP00000345719.4:p.Asp316Gly | |
| ENST00000474192.1:n.531A>G | ||
| NM_000113.2:c.947A>G | NP_000104.1:p.Asp316Gly | |
| XR_929731.3:n.1142A>G | ||
| NM_000113.3:c.947A>G MANE Select | NP_000104.1:p.Asp316Gly |