Linked Data
dbSNP Id:
rs138415711
gnomAD v2:
5-1394440-G-A
gnomAD v3:
5-1394325-G-A
gnomAD v4:
5-1394325-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1394325G>A , CM000667.2:g.1394325G>A | GRCh38 |
| NC_000005.9:g.1394440G>A , CM000667.1:g.1394440G>A | GRCh37 |
| NC_000005.8:g.1447440G>A | NCBI36 |
| NG_015885.1:g.56104C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270349.12:c.*410C>T MANE Select | ENSP00000270349.9:n.*410C>T | |
| ENST00000270349.11:c.*410C>T | ENSP00000270349.9:n.*410C>T | |
| ENST00000512002.2:n.654C>T | ||
| NM_001044.4:c.*410C>T | NP_001035.1:n.*410C>T | |
| NM_001044.5:c.*410C>T MANE Select | NP_001035.1:n.*410C>T |