Linked Data
gnomAD v4:
2-96143616-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96143616C>T , CM000664.2:g.96143616C>T | GRCh38 |
| NC_000002.11:g.96809355C>T , CM000664.1:g.96809355C>T | GRCh37 |
| NC_000002.10:g.96173082C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288943.5:c.*207G>A MANE Select | ENSP00000288943.4:n.*207G>A | |
| ENST00000288943.4:c.*207G>A | ENSP00000288943.4:n.*207G>A | |
| NM_004418.3:c.*207G>A | NP_004409.1:n.*207G>A | |
| XM_017003546.1:c.*207G>A | XP_016859035.1:n.*207G>A | |
| NM_004418.4:c.*207G>A MANE Select | NP_004409.1:n.*207G>A |