Linked Data
dbSNP Id:
rs10032549
gnomAD v2:
4-77398015-A-G
gnomAD v3:
4-76476862-A-G
gnomAD v4:
4-76476862-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76476862A>G , CM000666.2:g.76476862A>G | GRCh38 |
| NC_000004.11:g.77398015A>G , CM000666.1:g.77398015A>G | GRCh37 |
| NC_000004.10:g.77617039A>G | NCBI36 |
| NG_028077.1:g.46763A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296043.7:c.168+40642A>G MANE Select | ENSP00000296043.6:n.168+40642A>G | |
| ENST00000296043.6:c.168+40642A>G | ENSP00000296043.6:n.168+40642A>G | |
| ENST00000466541.1:n.75+40642A>G | ||
| ENST00000497440.5:n.109+40642A>G | ||
| NM_020859.3:c.168+40642A>G | NP_065910.3:n.168+40642A>G | |
| XM_005263162.3:c.168+40642A>G | XP_005263219.1:n.168+40642A>G | |
| XM_011532158.1:c.168+40642A>G | XP_011530460.1:n.168+40642A>G | |
| XM_011532159.1:c.168+40642A>G | XP_011530461.1:n.168+40642A>G | |
| XM_011532158.3:c.168+40642A>G | XP_011530460.1:n.168+40642A>G | |
| NM_020859.4:c.168+40642A>G MANE Select | NP_065910.3:n.168+40642A>G |