Linked Data
gnomAD v4:
2-96143564-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96143564A>G , CM000664.2:g.96143564A>G | GRCh38 |
| NC_000002.11:g.96809303A>G , CM000664.1:g.96809303A>G | GRCh37 |
| NC_000002.10:g.96173030A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288943.5:c.*259T>C MANE Select | ENSP00000288943.4:n.*259T>C | |
| ENST00000288943.4:c.*259T>C | ENSP00000288943.4:n.*259T>C | |
| NM_004418.3:c.*259T>C | NP_004409.1:n.*259T>C | |
| XM_017003546.1:c.*259T>C | XP_016859035.1:n.*259T>C | |
| NM_004418.4:c.*259T>C MANE Select | NP_004409.1:n.*259T>C |