Linked Data
gnomAD v4:
11-45910051-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45910051G>T , CM000673.2:g.45910051G>T | GRCh38 |
| NC_000011.9:g.45931602G>T , CM000673.1:g.45931602G>T | GRCh37 |
| NC_000011.8:g.45888178G>T | NCBI36 |
| NG_008460.1:g.13073C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.*203C>A MANE Select | ENSP00000368024.5:n.*203C>A | |
| ENST00000241041.7:c.*38C>A | ENSP00000241041.3:n.*38C>A | |
| NM_004813.2:c.*203C>A | NP_004804.1:n.*203C>A | |
| NM_057174.2:c.*38C>A | NP_476515.1:n.*38C>A | |
| NM_004813.3:c.*203C>A | NP_004804.1:n.*203C>A | |
| NM_004813.4:c.*203C>A MANE Select | NP_004804.2:n.*203C>A | |
| NM_057174.3:c.*38C>A | NP_476515.2:n.*38C>A |