Linked Data
dbSNP Id:
rs753864565
ExAC:
9:94486027 C / G
gnomAD v2:
9-94486027-C-G
gnomAD v4:
9-91723745-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91723745C>G , CM000671.2:g.91723745C>G | GRCh38 |
| NC_000009.11:g.94486027C>G , CM000671.1:g.94486027C>G | GRCh37 |
| NC_000009.10:g.93525848C>G | NCBI36 |
| NG_008089.1:g.231418G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.2749G>C MANE Select | ENSP00000364860.3:p.Glu917Gln | |
| ENST00000375708.3:c.2749G>C | ENSP00000364860.3:p.Glu917Gln | |
| ENST00000375715.5:c.1920+409G>C | ENSP00000364867.1:n.1920+409G>C | |
| ENST00000550066.5:n.3217G>C | ||
| NM_004560.3:c.2749G>C | NP_004551.2:p.Glu917Gln | |
| XM_005252008.3:c.2329G>C | XP_005252065.1:p.Glu777Gln | |
| XM_005252009.3:c.1546G>C | XP_005252066.1:p.Glu516Gln | |
| XM_006717121.2:c.2329G>C | XP_006717184.1:p.Glu777Gln | |
| XM_011518721.1:c.2329G>C | XP_011517023.1:p.Glu777Gln | |
| XM_005252008.4:c.2329G>C | XP_005252065.1:p.Glu777Gln | |
| XM_006717121.3:c.2329G>C | XP_006717184.1:p.Glu777Gln | |
| XM_017014762.1:c.2740G>C | XP_016870251.1:p.Glu914Gln | |
| XM_017014763.1:c.2329G>C | XP_016870252.1:p.Glu777Gln | |
| NM_004560.4:c.2749G>C MANE Select | NP_004551.2:p.Glu917Gln |