Linked Data
dbSNP Id:
rs980702337
gnomAD v2:
5-127640515-G-C
gnomAD v3:
5-128304823-G-C
gnomAD v4:
5-128304823-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128304823G>C , CM000667.2:g.128304823G>C | GRCh38 |
| NC_000005.9:g.127640515G>C , CM000667.1:g.127640515G>C | GRCh37 |
| NC_000005.8:g.127668414G>C | NCBI36 |
| NG_008750.1:g.238221C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2584+134C>G | ||
| ENST00000703785.1:n.2503+134C>G | ||
| ENST00000262464.9:c.5800+134C>G MANE Select | ENSP00000262464.4:n.5800+134C>G | |
| ENST00000262464.8:c.5800+134C>G | ENSP00000262464.4:n.5800+134C>G | |
| ENST00000508053.5:c.5800+134C>G | ENSP00000424571.1:n.5800+134C>G | |
| ENST00000619499.4:c.5797+134C>G | ENSP00000482132.1:n.5797+134C>G | |
| NM_001999.3:c.5800+134C>G | NP_001990.2:n.5800+134C>G | |
| XM_017009228.2:c.5647+134C>G | XP_016864717.1:n.5647+134C>G | |
| NM_001999.4:c.5800+134C>G MANE Select | NP_001990.2:n.5800+134C>G |