Linked Data
dbSNP Id:
rs447
gnomAD v2:
7-83772415-T-C
gnomAD v3:
7-84143099-T-C
gnomAD v4:
7-84143099-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.84143099T>C , CM000669.2:g.84143099T>C | GRCh38 |
| NC_000007.13:g.83772415T>C , CM000669.1:g.83772415T>C | GRCh37 |
| NC_000007.12:g.83610351T>C | NCBI36 |
| NG_011489.1:g.56803A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265362.9:c.113-8148A>G MANE Select | ENSP00000265362.3:n.113-8148A>G | |
| ENST00000265362.8:c.113-8148A>G | ENSP00000265362.3:n.113-8148A>G | |
| ENST00000420047.1:c.113-8148A>G | ENSP00000391900.1:n.113-8148A>G | |
| ENST00000436949.5:c.113-8148A>G | ENSP00000415260.1:n.113-8148A>G | |
| NM_006080.2:c.113-8148A>G | NP_006071.1:n.113-8148A>G | |
| XM_005250110.2:c.113-8148A>G | XP_005250167.1:n.113-8148A>G | |
| XM_005250111.3:c.113-8148A>G | XP_005250168.1:n.113-8148A>G | |
| XM_006715839.2:c.113-8148A>G | XP_006715902.1:n.113-8148A>G | |
| XM_011515734.1:c.113-8148A>G | XP_011514036.1:n.113-8148A>G | |
| XM_011515735.1:c.113-8148A>G | XP_011514037.1:n.113-8148A>G | |
| XM_005250110.3:c.113-8148A>G | XP_005250167.1:n.113-8148A>G | |
| XM_005250111.4:c.113-8148A>G | XP_005250168.1:n.113-8148A>G | |
| XM_006715839.3:c.113-8148A>G | XP_006715902.1:n.113-8148A>G | |
| XM_011515734.3:c.113-8148A>G | XP_011514036.1:n.113-8148A>G | |
| XM_017011673.1:c.113-8148A>G | XP_016867162.1:n.113-8148A>G | |
| XM_024446633.1:c.113-8148A>G | XP_024302401.1:n.113-8148A>G | |
| NM_006080.3:c.113-8148A>G MANE Select | NP_006071.1:n.113-8148A>G |