Linked Data
dbSNP Id:
rs17265703
gnomAD v2:
3-122048644-A-G
gnomAD v3:
3-122329797-A-G
gnomAD v4:
3-122329797-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122329797A>G , CM000665.2:g.122329797A>G | GRCh38 |
| NC_000003.11:g.122048644A>G , CM000665.1:g.122048644A>G | GRCh37 |
| NC_000003.10:g.123531334A>G | NCBI36 |
| NG_027995.1:g.9634A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264474.4:c.66+4439A>G MANE Select | ENSP00000264474.3:n.66+4439A>G | |
| ENST00000264474.3:c.66+4439A>G | ENSP00000264474.3:n.66+4439A>G | |
| ENST00000479204.1:c.66+4439A>G | ENSP00000418891.1:n.66+4439A>G | |
| NM_005213.3:c.66+4439A>G | NP_005204.1:n.66+4439A>G | |
| NM_005213.4:c.66+4439A>G MANE Select | NP_005204.1:n.66+4439A>G |