Linked Data
dbSNP Id:
rs252817
gnomAD v2:
5-106724588-C-T
gnomAD v3:
5-107388887-C-T
gnomAD v4:
5-107388887-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.107388887C>T , CM000667.2:g.107388887C>T | GRCh38 |
| NC_000005.9:g.106724588C>T , CM000667.1:g.106724588C>T | GRCh37 |
| NC_000005.8:g.106752487C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333274.11:c.419-1116G>A MANE Select | ENSP00000328777.6:n.419-1116G>A | |
| ENST00000333274.10:c.419-1116G>A | ENSP00000328777.6:n.419-1116G>A | |
| ENST00000509503.1:c.419-1116G>A | ENSP00000426989.1:n.419-1116G>A | |
| ENST00000611503.4:c.299-1116G>A | ENSP00000484681.1:n.299-1116G>A | |
| NM_001962.2:c.419-1116G>A | NP_001953.1:n.419-1116G>A | |
| XM_006714565.1:c.419-1116G>A | XP_006714628.1:n.419-1116G>A | |
| XM_011543250.1:c.365-1116G>A | XP_011541552.1:n.365-1116G>A | |
| XM_011543251.1:c.179-1116G>A | XP_011541553.1:n.179-1116G>A | |
| XM_006714565.3:c.419-1116G>A | XP_006714628.1:n.419-1116G>A | |
| XM_011543250.3:c.365-1116G>A | XP_011541552.1:n.365-1116G>A | |
| XM_011543251.2:c.179-1116G>A | XP_011541553.1:n.179-1116G>A | |
| XM_017009205.1:c.179-1116G>A | XP_016864694.1:n.179-1116G>A | |
| NM_001962.3:c.419-1116G>A MANE Select | NP_001953.1:n.419-1116G>A |