Linked Data
dbSNP Id:
rs765704568
ExAC:
5:180030299 C / T
gnomAD v2:
5-180030299-C-T
gnomAD v3:
5-180603299-C-T
gnomAD v4:
5-180603299-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180603299C>T , CM000667.2:g.180603299C>T | GRCh38 |
| NC_000005.9:g.180030299C>T , CM000667.1:g.180030299C>T | GRCh37 |
| NC_000005.8:g.179962905C>T | NCBI36 |
| NG_011536.1:g.51326G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261937.11:c.3985G>A MANE Select | ENSP00000261937.6:p.Gly1329Ser | |
| ENST00000261937.10:c.3985G>A | ENSP00000261937.6:p.Gly1329Ser | |
| ENST00000502603.5:n.685G>A | ||
| NM_182925.4:c.3985G>A | NP_891555.2:p.Gly1329Ser | |
| XM_011534477.1:c.4234G>A | XP_011532779.1:p.Gly1412Ser | |
| XM_011534478.1:c.4216G>A | XP_011532780.1:p.Gly1406Ser | |
| XM_011534482.1:c.4003G>A | XP_011532784.1:p.Gly1335Ser | |
| XM_011534483.1:c.3925G>A | XP_011532785.1:p.Gly1309Ser | |
| XM_011534484.1:c.3526G>A | XP_011532786.1:p.Gly1176Ser | |
| XR_941095.1:n.4271G>A | ||
| XM_011534478.3:c.4216G>A | XP_011532780.1:p.Gly1406Ser | |
| XM_011534484.2:c.3526G>A | XP_011532786.1:p.Gly1176Ser | |
| XM_017009263.1:c.*131G>A | XP_016864752.1:n.*131G>A | |
| XM_017009268.1:c.3907G>A | XP_016864757.1:p.Gly1303Ser | |
| XR_001742050.2:n.4475G>A | ||
| NM_182925.5:c.3985G>A MANE Select | NP_891555.2:p.Gly1329Ser |