Linked Data
dbSNP Id:
rs2086310
ExAC:
5:5146335 C / G
gnomAD v2:
5-5146335-C-G
gnomAD v3:
5-5146222-C-G
gnomAD v4:
5-5146222-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.5146222C>G , CM000667.2:g.5146222C>G | GRCh38 |
| NC_000005.9:g.5146335C>G , CM000667.1:g.5146335C>G | GRCh37 |
| NC_000005.8:g.5199335C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274181.7:c.268C>G MANE Select | ENSP00000274181.7:p.Pro90Ala | |
| ENST00000433402.2:n.268C>G | ||
| ENST00000511368.5:c.268C>G | ENSP00000421631.1:p.Pro90Ala | |
| NM_139056.2:c.268C>G | NP_620687.2:p.Pro90Ala | |
| XM_011513989.1:c.268C>G | XP_011512291.1:p.Pro90Ala | |
| NM_139056.3:c.268C>G | NP_620687.2:p.Pro90Ala | |
| NR_136935.1:n.406C>G | ||
| XR_001742032.1:n.406C>G | ||
| NM_139056.4:c.268C>G MANE Select | NP_620687.2:p.Pro90Ala | |
| NR_136935.2:n.406C>G |