Linked Data
gnomAD v4:
4-40354198-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354198T>A , CM000666.2:g.40354198T>A | GRCh38 |
| NC_000004.11:g.40356215T>A , CM000666.1:g.40356215T>A | GRCh37 |
| NC_000004.10:g.40050972T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310169.3:c.1118T>A MANE Select | ENSP00000312663.2:p.Val373Asp | |
| ENST00000310169.2:c.1118T>A | ENSP00000312663.2:p.Val373Asp | |
| NM_017581.3:c.1118T>A | NP_060051.2:p.Val373Asp | |
| NM_017581.4:c.1118T>A MANE Select | NP_060051.2:p.Val373Asp |