Linked Data
gnomAD v4:
5-1394314-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1394314A>G , CM000667.2:g.1394314A>G | GRCh38 |
| NC_000005.9:g.1394429A>G , CM000667.1:g.1394429A>G | GRCh37 |
| NC_000005.8:g.1447429A>G | NCBI36 |
| NG_015885.1:g.56115T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270349.12:c.*421T>C MANE Select | ENSP00000270349.9:n.*421T>C | |
| ENST00000270349.11:c.*421T>C | ENSP00000270349.9:n.*421T>C | |
| ENST00000512002.2:n.665T>C | ||
| NM_001044.4:c.*421T>C | NP_001035.1:n.*421T>C | |
| NM_001044.5:c.*421T>C MANE Select | NP_001035.1:n.*421T>C |