Linked Data
dbSNP Id:
rs753226620
ExAC:
10:8100543 G / T
gnomAD v2:
10-8100543-G-T
gnomAD v4:
10-8058580-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8058580G>T , CM000672.2:g.8058580G>T | GRCh38 |
| NC_000010.10:g.8100543G>T , CM000672.1:g.8100543G>T | GRCh37 |
| NC_000010.9:g.8140549G>T | NCBI36 |
| NG_015859.1:g.8877G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346208.4:c.517G>T | ENSP00000341619.3:p.Ala173Ser | |
| ENST00000379328.9:c.517G>T MANE Select | ENSP00000368632.3:p.Ala173Ser | |
| ENST00000346208.3:c.517G>T | ENSP00000341619.3:p.Ala173Ser | |
| ENST00000379328.7:c.517G>T | ENSP00000368632.3:p.Ala173Ser | |
| ENST00000461472.1:n.182G>T | ||
| NM_001002295.1:c.517G>T | NP_001002295.1:p.Ala173Ser | |
| NM_002051.2:c.517G>T | NP_002042.1:p.Ala173Ser | |
| XM_005252442.2:c.517G>T | XP_005252499.1:p.Ala173Ser | |
| XM_005252443.3:c.517G>T | XP_005252500.1:p.Ala173Ser | |
| XM_005252443.5:c.517G>T | XP_005252500.1:p.Ala173Ser | |
| NM_001002295.2:c.517G>T MANE Select | NP_001002295.1:p.Ala173Ser | |
| NM_002051.3:c.517G>T | NP_002042.1:p.Ala173Ser |