Linked Data
dbSNP Id:
rs1750732681
gnomAD v4:
5-128332940-G-C
MyVariant Identifiers:
chr5:g.127668632G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128332940G>C , CM000667.2:g.128332940G>C | GRCh38 |
| NC_000005.9:g.127668632G>C , CM000667.1:g.127668632G>C | GRCh37 |
| NC_000005.8:g.127696531G>C | NCBI36 |
| NG_008750.1:g.210104C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.978C>G | ||
| ENST00000703785.1:n.1059C>G | ||
| ENST00000262464.9:c.4194C>G MANE Select | ENSP00000262464.4:p.Gly1398= | |
| ENST00000262464.8:c.4194C>G | ENSP00000262464.4:p.Gly1398= | |
| ENST00000507835.5:c.744C>G | ENSP00000426839.1:p.Gly248= | |
| ENST00000508053.5:c.4194C>G | ENSP00000424571.1:p.Gly1398= | |
| ENST00000508989.5:c.4095C>G | ENSP00000425596.1:p.Gly1365= | |
| ENST00000619499.4:c.4191C>G | ENSP00000482132.1:p.Gly1397= | |
| NM_001999.3:c.4194C>G | NP_001990.2:p.Gly1398= | |
| XM_017009228.2:c.4041C>G | XP_016864717.1:p.Gly1347= | |
| NM_001999.4:c.4194C>G MANE Select | NP_001990.2:p.Gly1398= |