Linked Data
dbSNP Id:
rs772121804
ExAC:
17:48263212 C / G
gnomAD v2:
17-48263212-C-G
gnomAD v4:
17-50185851-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185851C>G , CM000679.2:g.50185851C>G | GRCh38 |
| NC_000017.10:g.48263212C>G , CM000679.1:g.48263212C>G | GRCh37 |
| NC_000017.9:g.45618211C>G | NCBI36 |
| NG_007400.1:g.20789G>C , LRG_1:g.20789G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4175G>C MANE Select | ENSP00000225964.6:p.Gly1392Ala | |
| ENST00000225964.9:c.4175G>C | ENSP00000225964.5:p.Gly1392Ala | |
| ENST00000510710.3:n.1140G>C | ||
| NM_000088.3:c.4175G>C , LRG_1t1:c.4175G>C | NP_000079.2:p.Gly1392Ala | |
| XM_005257058.3:c.3905G>C | XP_005257115.2:p.Gly1302Ala | |
| XM_005257059.3:c.3257G>C | XP_005257116.2:p.Gly1086Ala | |
| XM_011524341.1:c.3977G>C | XP_011522643.1:p.Gly1326Ala | |
| XM_005257058.4:c.3905G>C | XP_005257115.2:p.Gly1302Ala | |
| XM_005257059.4:c.3257G>C | XP_005257116.2:p.Gly1086Ala | |
| NM_000088.4:c.4175G>C MANE Select | NP_000079.2:p.Gly1392Ala |