Linked Data
dbSNP Id:
rs748716795
ExAC:
5:138282873 C / G
gnomAD v2:
5-138282873-C-G
gnomAD v4:
5-138947184-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138947184C>G , CM000667.2:g.138947184C>G | GRCh38 |
| NC_000005.9:g.138282873C>G , CM000667.1:g.138282873C>G | GRCh37 |
| NC_000005.8:g.138310772C>G | NCBI36 |
| NG_008112.1:g.256193G>C | |
| NG_008112.2:g.256193G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394817.7:c.1319G>C MANE Select | ENSP00000378294.2:p.Gly440Ala | |
| ENST00000265195.9:c.1319G>C | ENSP00000265195.5:p.Gly440Ala | |
| ENST00000394817.6:c.1319G>C | ENSP00000378294.2:p.Gly440Ala | |
| ENST00000509534.5:c.1340G>C | ENSP00000426858.1:p.Gly447Ala | |
| ENST00000515008.1:n.654G>C | ||
| NM_001037633.1:c.1319G>C | NP_001032722.1:p.Gly440Ala | |
| NM_022464.4:c.1319G>C | NP_071909.1:p.Gly440Ala | |
| XM_011543570.1:c.1349G>C | XP_011541872.1:p.Gly450Ala | |
| XM_011543570.2:c.1349G>C | XP_011541872.1:p.Gly450Ala | |
| XM_024446164.1:c.1319G>C | XP_024301932.1:p.Gly440Ala | |
| NM_022464.5:c.1319G>C MANE Select | NP_071909.1:p.Gly440Ala | |
| NM_001037633.2:c.1319G>C | NP_001032722.1:p.Gly440Ala |