Linked Data
dbSNP Id:
rs10274279
gnomAD v2:
7-157387441-T-C
gnomAD v3:
7-157594749-T-C
gnomAD v4:
7-157594749-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.157594749T>C , CM000669.2:g.157594749T>C | GRCh38 |
| NC_000007.13:g.157387441T>C , CM000669.1:g.157387441T>C | GRCh37 |
| NC_000007.12:g.157080202T>C | NCBI36 |
| NG_029966.1:g.998042A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389418.9:c.2496+489A>G MANE Select | ENSP00000374069.4:n.2496+489A>G | |
| ENST00000648371.1:c.300+489A>G | ENSP00000498058.1:n.300+489A>G | |
| ENST00000389413.7:c.2409+489A>G | ENSP00000374064.3:n.2409+489A>G | |
| ENST00000389416.8:c.2445+489A>G | ENSP00000374067.4:n.2445+489A>G | |
| ENST00000389418.8:c.2496+489A>G | ENSP00000374069.4:n.2496+489A>G | |
| ENST00000409483.5:c.2382+489A>G | ENSP00000387114.1:n.2382+489A>G | |
| NM_001308267.1:c.2382+489A>G | NP_001295196.1:n.2382+489A>G | |
| NM_001308268.1:c.2565+489A>G | NP_001295197.1:n.2565+489A>G | |
| NM_002847.3:c.2496+489A>G | NP_002838.2:n.2496+489A>G | |
| NM_002847.4:c.2496+489A>G | NP_002838.2:n.2496+489A>G | |
| NM_130842.2:c.2445+489A>G | NP_570857.2:n.2445+489A>G | |
| NM_130842.3:c.2445+489A>G | NP_570857.2:n.2445+489A>G | |
| NM_130843.2:c.2409+489A>G | NP_570858.2:n.2409+489A>G | |
| NM_130843.3:c.2409+489A>G | NP_570858.2:n.2409+489A>G | |
| XM_011516446.1:c.*86A>G | XP_011514748.1:n.*86A>G | |
| XM_017012475.1:c.2298+489A>G | XP_016867964.1:n.2298+489A>G | |
| XM_017012476.1:c.*36A>G | XP_016867965.1:n.*36A>G | |
| NM_002847.5:c.2496+489A>G MANE Select | NP_002838.2:n.2496+489A>G | |
| NM_001308267.2:c.2382+489A>G | NP_001295196.1:n.2382+489A>G | |
| NM_130842.4:c.2445+489A>G | NP_570857.2:n.2445+489A>G | |
| NM_130843.4:c.2409+489A>G | NP_570858.2:n.2409+489A>G | |
| NM_001308268.2:c.2565+489A>G | NP_001295197.1:n.2565+489A>G |