Linked Data
dbSNP Id:
rs326155
gnomAD v2:
5-7816645-A-G
gnomAD v3:
5-7816532-A-G
gnomAD v4:
5-7816532-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7816532A>G , CM000667.2:g.7816532A>G | GRCh38 |
| NC_000005.9:g.7816645A>G , CM000667.1:g.7816645A>G | GRCh37 |
| NC_000005.8:g.7869645A>G | NCBI36 |
| NG_046913.1:g.425303A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338316.9:c.2884-334A>G MANE Select | ENSP00000342952.4:n.2884-334A>G | |
| ENST00000338316.8:c.2884-334A>G | ENSP00000342952.4:n.2884-334A>G | |
| ENST00000382531.7:n.595-334A>G | ||
| ENST00000489501.1:n.8855-334A>G | ||
| ENST00000493243.5:c.517-334A>G | ||
| ENST00000537121.5:c.2878-334A>G | ENSP00000444803.2:n.2878-334A>G | |
| NM_020546.2:c.2884-334A>G | NP_065433.2:n.2884-334A>G | |
| XM_011513942.1:c.2746-334A>G | XP_011512244.1:n.2746-334A>G | |
| XR_427657.2:n.2881-334A>G | ||
| XM_011513942.2:c.2746-334A>G | XP_011512244.1:n.2746-334A>G | |
| XR_001741973.1:n.3594-334A>G | ||
| XR_001741974.2:n.2813-334A>G | ||
| NM_020546.3:c.2884-334A>G MANE Select | NP_065433.2:n.2884-334A>G |