Linked Data
dbSNP Id:
rs12266644
gnomAD v2:
10-102559058-G-T
gnomAD v3:
10-100799301-G-T
gnomAD v4:
10-100799301-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100799301G>T , CM000672.2:g.100799301G>T | GRCh38 |
| NC_000010.10:g.102559058G>T , CM000672.1:g.102559058G>T | GRCh37 |
| NC_000010.9:g.102549048G>T | NCBI36 |
| NG_008680.1:g.58591G>T | |
| NG_008680.2:g.68593G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707078.1:c.710-7129G>T | ENSP00000516729.1:n.710-7129G>T | |
| ENST00000707079.1:c.686-7129G>T | ENSP00000516730.1:n.686-7129G>T | |
| ENST00000355243.8:c.617-7129G>T MANE Select | ENSP00000347385.3:n.617-7129G>T | |
| ENST00000427256.6:c.617-7129G>T | ENSP00000398652.2:n.617-7129G>T | |
| ENST00000679374.1:c.599-7129G>T | ENSP00000506041.1:n.599-7129G>T | |
| ENST00000355243.7:c.617-7129G>T | ENSP00000347385.2:n.617-7129G>T | |
| ENST00000361791.7:c.614-7129G>T | ENSP00000355069.4:n.614-7129G>T | |
| ENST00000370296.6:c.617-7129G>T | ENSP00000359319.3:n.617-7129G>T | |
| ENST00000428433.5:c.686-7129G>T | ENSP00000396259.1:n.686-7129G>T | |
| ENST00000553492.5:n.338-7129G>T | ||
| ENST00000554172.2:c.605-7129G>T | ENSP00000452489.2:n.605-7129G>T | |
| ENST00000554363.2:n.332-7129G>T | ||
| NM_000278.3:c.617-7129G>T | NP_000269.2:n.617-7129G>T | |
| NM_001304569.1:c.710-7129G>T | NP_001291498.1:n.710-7129G>T | |
| NM_003987.3:c.686-7129G>T | NP_003978.2:n.686-7129G>T | |
| NM_003988.3:c.617-7129G>T | NP_003979.2:n.617-7129G>T | |
| NM_003989.3:c.617-7129G>T | NP_003980.2:n.617-7129G>T | |
| NM_003990.3:c.686-7129G>T | NP_003981.2:n.686-7129G>T | |
| NM_000278.4:c.617-7129G>T | NP_000269.3:n.617-7129G>T | |
| NM_003987.4:c.686-7129G>T | NP_003978.3:n.686-7129G>T | |
| NM_003988.4:c.617-7129G>T | NP_003979.2:n.617-7129G>T | |
| NM_003989.4:c.617-7129G>T | NP_003980.3:n.617-7129G>T | |
| NM_003990.4:c.686-7129G>T | NP_003981.3:n.686-7129G>T | |
| NM_000278.5:c.617-7129G>T MANE Select | NP_000269.3:n.617-7129G>T | |
| NM_001304569.2:c.710-7129G>T | NP_001291498.1:n.710-7129G>T | |
| NM_003987.5:c.686-7129G>T | NP_003978.3:n.686-7129G>T | |
| NM_003988.5:c.617-7129G>T | NP_003979.2:n.617-7129G>T | |
| NM_003989.5:c.617-7129G>T | NP_003980.3:n.617-7129G>T | |
| NM_003990.5:c.686-7129G>T | NP_003981.3:n.686-7129G>T |