Linked Data
dbSNP Id:
rs1168437131
gnomAD v2:
5-127666115-A-G
gnomAD v3:
5-128330423-A-G
gnomAD v4:
5-128330423-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128330423A>G , CM000667.2:g.128330423A>G | GRCh38 |
| NC_000005.9:g.127666115A>G , CM000667.1:g.127666115A>G | GRCh37 |
| NC_000005.8:g.127694014A>G | NCBI36 |
| NG_008750.1:g.212621T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1129+150T>C | ||
| ENST00000703785.1:n.1210+150T>C | ||
| ENST00000262464.9:c.4345+150T>C MANE Select | ENSP00000262464.4:n.4345+150T>C | |
| ENST00000262464.8:c.4345+150T>C | ENSP00000262464.4:n.4345+150T>C | |
| ENST00000507835.5:c.895+150T>C | ENSP00000426839.1:n.895+150T>C | |
| ENST00000508053.5:c.4345+150T>C | ENSP00000424571.1:n.4345+150T>C | |
| ENST00000508989.5:c.4246+150T>C | ENSP00000425596.1:n.4246+150T>C | |
| ENST00000619499.4:c.4342+150T>C | ENSP00000482132.1:n.4342+150T>C | |
| NM_001999.3:c.4345+150T>C | NP_001990.2:n.4345+150T>C | |
| XM_017009228.2:c.4192+150T>C | XP_016864717.1:n.4192+150T>C | |
| NM_001999.4:c.4345+150T>C MANE Select | NP_001990.2:n.4345+150T>C |