Linked Data
gnomAD v4:
X-108084544-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108084544A>C , CM000685.2:g.108084544A>C | GRCh38 |
| NC_000023.10:g.107327774A>C , CM000685.1:g.107327774A>C | GRCh37 |
| NC_000023.9:g.107214430A>C | NCBI36 |
| NG_012521.1:g.12075T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217958.8:c.*430T>G MANE Select | ENSP00000217958.3:n.*430T>G | |
| ENST00000217958.7:c.*430T>G | ENSP00000217958.3:n.*430T>G | |
| NM_002814.3:c.*430T>G | NP_002805.1:n.*430T>G | |
| NM_170750.2:c.*576T>G | NP_736606.1:n.*576T>G | |
| NM_002814.4:c.*430T>G MANE Select | NP_002805.1:n.*430T>G | |
| NM_170750.3:c.*576T>G | NP_736606.1:n.*576T>G |