Linked Data
gnomAD v4:
19-49016031-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49016031G>A , CM000681.2:g.49016031G>A | GRCh38 |
| NC_000019.9:g.49519288G>A , CM000681.1:g.49519288G>A | GRCh37 |
| NC_000019.8:g.54211100G>A | NCBI36 |
| NG_011464.1:g.6060C>T | |
| NG_033041.1:g.27133G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649238.3:c.*37C>T MANE Select | ENSP00000497294.2:n.*37C>T | |
| ENST00000221421.6:c.463C>T | ENSP00000221421.1:n.463C>T | |
| ENST00000391869.4:c.453C>T | ENSP00000375742.4:p.Leu151= | |
| NM_000894.2:c.*37C>T | NP_000885.1:n.*37C>T | |
| XM_011526975.1:c.*37C>T | XP_011525277.1:n.*37C>T | |
| NM_000894.3:c.*37C>T MANE Select | NP_000885.1:n.*37C>T |