Linked Data
dbSNP Id:
rs754873538
ExAC:
17:13972929 G / T
gnomAD v2:
17-13972929-G-T
gnomAD v3:
17-14069612-G-T
gnomAD v4:
17-14069612-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14069612G>T , CM000679.2:g.14069612G>T | GRCh38 |
| NC_000017.10:g.13972929G>T , CM000679.1:g.13972929G>T | GRCh37 |
| NC_000017.9:g.13913654G>T | NCBI36 |
| NG_008034.1:g.5211G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.7G>T MANE Select | ENSP00000261643.3:p.Ala3Ser | |
| ENST00000664217.1:c.7G>T | ENSP00000499396.1:p.Ala3Ser | |
| ENST00000670279.1:c.7G>T | ENSP00000499450.1:p.Ala3Ser | |
| ENST00000261643.7:c.7G>T | ENSP00000261643.3:p.Ala3Ser | |
| ENST00000429152.6:c.7G>T | ENSP00000397750.2:p.Ala3Ser | |
| ENST00000580561.1:c.7G>T | ENSP00000462190.1:p.Ala3Ser | |
| ENST00000581931.5:c.7G>T | ENSP00000462512.1:p.Ala3Ser | |
| NM_001303.3:c.7G>T | NP_001294.2:p.Ala3Ser | |
| XM_005256458.1:c.7G>T | XP_005256515.1:p.Ala3Ser | |
| XM_011523657.1:c.7G>T | XP_011521959.1:p.Ala3Ser | |
| XM_011523658.1:c.-445G>T | XP_011521960.1:n.-445G>T | |
| XR_933974.1:n.110G>T | ||
| XR_933975.1:n.110G>T | ||
| NM_001303.4:c.7G>T MANE Select | NP_001294.2:p.Ala3Ser |