Linked Data
dbSNP Id:
rs910106774
gnomAD v2:
5-1444462-C-A
gnomAD v3:
5-1444347-C-A
gnomAD v4:
5-1444347-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1444347C>A , CM000667.2:g.1444347C>A | GRCh38 |
| NC_000005.9:g.1444462C>A , CM000667.1:g.1444462C>A | GRCh37 |
| NC_000005.8:g.1497462C>A | NCBI36 |
| NG_015885.1:g.6082G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270349.12:c.-46+1001G>T MANE Select | ENSP00000270349.9:n.-46+1001G>T | |
| ENST00000270349.11:c.-46+1001G>T | ENSP00000270349.9:n.-46+1001G>T | |
| NM_001044.4:c.-46+1001G>T | NP_001035.1:n.-46+1001G>T | |
| NM_001044.5:c.-46+1001G>T MANE Select | NP_001035.1:n.-46+1001G>T |