Linked Data
dbSNP Id:
rs762401503
ExAC:
5:127671659 G / C
gnomAD v2:
5-127671659-G-C
gnomAD v4:
5-128335967-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128335967G>C , CM000667.2:g.128335967G>C | GRCh38 |
| NC_000005.9:g.127671659G>C , CM000667.1:g.127671659G>C | GRCh37 |
| NC_000005.8:g.127699558G>C | NCBI36 |
| NG_008750.1:g.207077C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703783.1:n.508+21C>G | ||
| ENST00000703785.1:n.589+21C>G | ||
| ENST00000262464.9:c.3724+21C>G MANE Select | ENSP00000262464.4:n.3724+21C>G | |
| ENST00000262464.8:c.3724+21C>G | ENSP00000262464.4:n.3724+21C>G | |
| ENST00000507835.5:c.274+21C>G | ENSP00000426839.1:n.274+21C>G | |
| ENST00000508053.5:c.3724+21C>G | ENSP00000424571.1:n.3724+21C>G | |
| ENST00000508989.5:c.3625+21C>G | ENSP00000425596.1:n.3625+21C>G | |
| ENST00000619499.4:c.3721+21C>G | ENSP00000482132.1:n.3721+21C>G | |
| NM_001999.3:c.3724+21C>G | NP_001990.2:n.3724+21C>G | |
| XM_017009228.2:c.3571+21C>G | XP_016864717.1:n.3571+21C>G | |
| NM_001999.4:c.3724+21C>G MANE Select | NP_001990.2:n.3724+21C>G |