Linked Data
dbSNP Id:
rs1282682430
gnomAD v2:
5-127863521-T-C
gnomAD v3:
5-128527828-T-C
gnomAD v4:
5-128527828-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128527828T>C , CM000667.2:g.128527828T>C | GRCh38 |
| NC_000005.9:g.127863521T>C , CM000667.1:g.127863521T>C | GRCh37 |
| NC_000005.8:g.127891420T>C | NCBI36 |
| NG_008750.1:g.15215A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000508053.6:c.532+44A>G | ENSP00000424571.2:n.532+44A>G | |
| ENST00000703787.1:n.239+44A>G | ||
| ENST00000262464.9:c.532+44A>G MANE Select | ENSP00000262464.4:n.532+44A>G | |
| ENST00000262464.8:c.532+44A>G | ENSP00000262464.4:n.532+44A>G | |
| ENST00000502468.5:c.532+44A>G | ENSP00000424753.1:n.532+44A>G | |
| ENST00000508053.5:c.532+44A>G | ENSP00000424571.1:n.532+44A>G | |
| ENST00000508989.5:c.433+44A>G | ENSP00000425596.1:n.433+44A>G | |
| ENST00000514742.1:n.1152+44A>G | ||
| ENST00000619499.4:c.532+44A>G | ENSP00000482132.1:n.532+44A>G | |
| ENST00000620257.1:c.532+44A>G | ENSP00000479157.1:n.532+44A>G | |
| NM_001999.3:c.532+44A>G | NP_001990.2:n.532+44A>G | |
| XM_017009228.2:c.532+44A>G | XP_016864717.1:n.532+44A>G | |
| NM_001999.4:c.532+44A>G MANE Select | NP_001990.2:n.532+44A>G |