Linked Data
gnomAD v4:
2-38076407-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38076407C>A , CM000664.2:g.38076407C>A | GRCh38 |
| NC_000002.11:g.38303549C>A , CM000664.1:g.38303549C>A | GRCh37 |
| NC_000002.10:g.38157053C>A | NCBI36 |
| NG_008386.2:g.4695G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494864.1:c.-70-5097G>T | ENSP00000479876.1:n.-70-5097G>T | |
| XM_011533236.1:c.1021C>A | XP_011531538.1:p.Gln341Lys |