Linked Data
gnomAD v4:
10-47350581-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350581G>T , CM000672.2:g.47350581G>T | GRCh38 |
| NC_000010.10:g.48388781C>A , CM000672.1:g.48388781C>A | GRCh37 |
| NC_000010.9:g.48008787C>A | NCBI36 |
| NG_029718.1:g.7211G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.2097G>T MANE Select | ENSP00000463151.1:p.Leu699Phe | |
| ENST00000584701.1:c.2097G>T | ENSP00000463151.1:p.Leu699Phe | |
| NM_002900.2:c.2097G>T | NP_002891.1:p.Leu699Phe | |
| NM_002900.3:c.2097G>T MANE Select | NP_002891.1:p.Leu699Phe |