Linked Data
dbSNP Id:
rs569861352
gnomAD v2:
5-127666193-T-C
gnomAD v3:
5-128330501-T-C
gnomAD v4:
5-128330501-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128330501T>C , CM000667.2:g.128330501T>C | GRCh38 |
| NC_000005.9:g.127666193T>C , CM000667.1:g.127666193T>C | GRCh37 |
| NC_000005.8:g.127694092T>C | NCBI36 |
| NG_008750.1:g.212543A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1129+72A>G | ||
| ENST00000703785.1:n.1210+72A>G | ||
| ENST00000262464.9:c.4345+72A>G MANE Select | ENSP00000262464.4:n.4345+72A>G | |
| ENST00000262464.8:c.4345+72A>G | ENSP00000262464.4:n.4345+72A>G | |
| ENST00000507835.5:c.895+72A>G | ENSP00000426839.1:n.895+72A>G | |
| ENST00000508053.5:c.4345+72A>G | ENSP00000424571.1:n.4345+72A>G | |
| ENST00000508989.5:c.4246+72A>G | ENSP00000425596.1:n.4246+72A>G | |
| ENST00000619499.4:c.4342+72A>G | ENSP00000482132.1:n.4342+72A>G | |
| NM_001999.3:c.4345+72A>G | NP_001990.2:n.4345+72A>G | |
| XM_017009228.2:c.4192+72A>G | XP_016864717.1:n.4192+72A>G | |
| NM_001999.4:c.4345+72A>G MANE Select | NP_001990.2:n.4345+72A>G |