Linked Data
ClinVar Variation Id:
318204
dbSNP Id:
rs369671309
ExAC:
16:1639638 G / A
gnomAD v2:
16-1639638-G-A
gnomAD v3:
16-1589637-G-A
gnomAD v4:
16-1589637-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1589637G>A , CM000678.2:g.1589637G>A | GRCh38 |
| NC_000016.9:g.1639638G>A , CM000678.1:g.1639638G>A | GRCh37 |
| NC_000016.8:g.1579639G>A | NCBI36 |
| NG_032783.1:g.27472C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.778C>T MANE Select | ENSP00000406012.2:p.Pro260Ser | |
| ENST00000397417.6:c.329-5217C>T | ENSP00000380562.2:n.329-5217C>T | |
| ENST00000426508.6:c.778C>T | ENSP00000406012.2:p.Pro260Ser | |
| ENST00000439987.6:n.839C>T | ||
| NM_014714.3:c.778C>T | NP_055529.2:p.Pro260Ser | |
| XM_005255725.3:c.778C>T | XP_005255782.1:p.Pro260Ser | |
| XM_005255726.2:c.778C>T | XP_005255783.1:p.Pro260Ser | |
| XM_006720989.2:c.778C>T | XP_006721052.1:p.Pro260Ser | |
| XM_006720990.2:c.778C>T | XP_006721053.1:p.Pro260Ser | |
| XM_006720991.2:c.778C>T | XP_006721054.1:p.Pro260Ser | |
| XM_011522766.1:c.778C>T | XP_011521068.1:p.Pro260Ser | |
| XM_011522768.1:c.778C>T | XP_011521070.1:p.Pro260Ser | |
| XM_011522769.1:c.778C>T | XP_011521071.1:p.Pro260Ser | |
| XM_011522771.1:c.778C>T | XP_011521073.1:p.Pro260Ser | |
| XM_011522772.1:c.778C>T | XP_011521074.1:p.Pro260Ser | |
| NR_135176.1:n.59+9052G>A | ||
| XM_005255725.5:c.778C>T | XP_005255782.1:p.Pro260Ser | |
| XM_005255726.4:c.778C>T | XP_005255783.1:p.Pro260Ser | |
| XM_006720990.3:c.778C>T | XP_006721053.1:p.Pro260Ser | |
| XM_006720991.3:c.778C>T | XP_006721054.1:p.Pro260Ser | |
| XM_011522766.3:c.778C>T | XP_011521068.1:p.Pro260Ser | |
| XM_011522769.3:c.778C>T | XP_011521071.1:p.Pro260Ser | |
| XM_011522771.3:c.778C>T | XP_011521073.1:p.Pro260Ser | |
| XM_011522772.3:c.778C>T | XP_011521074.1:p.Pro260Ser | |
| XM_017023910.1:c.778C>T | XP_016879399.1:p.Pro260Ser | |
| XM_017023911.1:c.-920C>T | XP_016879400.1:n.-920C>T | |
| NM_014714.4:c.778C>T MANE Select | NP_055529.2:p.Pro260Ser |