Linked Data
gnomAD v4:
2-240878781-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878781T>A , CM000664.2:g.240878781T>A | GRCh38 |
| NC_000002.11:g.241818198T>A , CM000664.1:g.241818198T>A | GRCh37 |
| NC_000002.10:g.241466871T>A | NCBI36 |
| NG_008005.1:g.15037T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.1139T>A MANE Select | ENSP00000302620.3:p.Leu380Gln | |
| ENST00000307503.3:c.1139T>A | ENSP00000302620.3:p.Leu380Gln | |
| ENST00000470255.1:n.917T>A | ||
| NM_000030.2:c.1139T>A | NP_000021.1:p.Leu380Gln | |
| NM_000030.3:c.1139T>A MANE Select | NP_000021.1:p.Leu380Gln |