Linked Data
dbSNP Id:
rs1448037
gnomAD v2:
5-44352344-T-C
gnomAD v3:
5-44352242-T-C
gnomAD v4:
5-44352242-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.44352242T>C , CM000667.2:g.44352242T>C | GRCh38 |
| NC_000005.9:g.44352344T>C , CM000667.1:g.44352344T>C | GRCh37 |
| NC_000005.8:g.44388101T>C | NCBI36 |
| NG_011446.1:g.41441A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264664.5:c.325+36116A>G MANE Select | ENSP00000264664.4:n.325+36116A>G | |
| ENST00000264664.4:c.325+36116A>G | ENSP00000264664.4:n.325+36116A>G | |
| NM_004465.1:c.325+36116A>G | NP_004456.1:n.325+36116A>G | |
| XM_005248264.2:c.325+36116A>G | XP_005248321.1:n.325+36116A>G | |
| XM_005248264.4:c.325+36116A>G | XP_005248321.1:n.325+36116A>G | |
| NM_004465.2:c.325+36116A>G MANE Select | NP_004456.1:n.325+36116A>G |