Linked Data
dbSNP Id:
rs759706635
ExAC:
5:127673691 A / G
gnomAD v2:
5-127673691-A-G
gnomAD v4:
5-128337999-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128337999A>G , CM000667.2:g.128337999A>G | GRCh38 |
| NC_000005.9:g.127673691A>G , CM000667.1:g.127673691A>G | GRCh37 |
| NC_000005.8:g.127701590A>G | NCBI36 |
| NG_008750.1:g.205045T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.380T>C | ||
| ENST00000703785.1:n.461T>C | ||
| ENST00000262464.9:c.3596T>C MANE Select | ENSP00000262464.4:p.Val1199Ala | |
| ENST00000262464.8:c.3596T>C | ENSP00000262464.4:p.Val1199Ala | |
| ENST00000507835.5:c.146T>C | ENSP00000426839.1:p.Val49Ala | |
| ENST00000508053.5:c.3596T>C | ENSP00000424571.1:p.Val1199Ala | |
| ENST00000508989.5:c.3497T>C | ENSP00000425596.1:p.Val1166Ala | |
| ENST00000619499.4:c.3593T>C | ENSP00000482132.1:p.Val1198Ala | |
| NM_001999.3:c.3596T>C | NP_001990.2:p.Val1199Ala | |
| XM_017009228.2:c.3443T>C | XP_016864717.1:p.Val1148Ala | |
| NM_001999.4:c.3596T>C MANE Select | NP_001990.2:p.Val1199Ala |