Linked Data
ClinVar Variation Id:
198050
dbSNP Id:
rs794727775
gnomAD v4:
7-44149838-C-A
ERepo:
CA246541/MONDO:0015967/086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44149838C>A , CM000669.2:g.44149838C>A | GRCh38 |
| NC_000007.13:g.44189437C>A , CM000669.1:g.44189437C>A | GRCh37 |
| NC_000007.12:g.44155962C>A | NCBI36 |
| NG_008847.1:g.44586G>T | |
| NG_008847.2:g.53333G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395796.8:c.*599G>T | ENSP00000379142.4:n.*599G>T | |
| ENST00000616242.5:c.601G>T | ENSP00000482149.2:p.Ala201Ser | |
| ENST00000682635.1:n.1087G>T | ||
| ENST00000345378.7:c.604G>T | ENSP00000223366.2:p.Ala202Ser | |
| ENST00000403799.8:c.601G>T MANE Select | ENSP00000384247.3:p.Ala201Ser | |
| ENST00000671824.1:c.601G>T | ENSP00000500264.1:p.Ala201Ser | |
| ENST00000673284.1:c.601G>T | ENSP00000499852.1:p.Ala201Ser | |
| ENST00000345378.6:c.604G>T | ENSP00000223366.2:p.Ala202Ser | |
| ENST00000395796.7:c.598G>T | ENSP00000379142.3:p.Ala200Ser | |
| ENST00000403799.7:c.601G>T | ENSP00000384247.3:p.Ala201Ser | |
| ENST00000437084.1:c.550G>T | ENSP00000402840.1:p.Ala184Ser | |
| ENST00000616242.4:c.598G>T | ENSP00000482149.1:p.Ala200Ser | |
| NM_000162.3:c.601G>T | NP_000153.1:p.Ala201Ser | |
| NM_033507.1:c.604G>T | NP_277042.1:p.Ala202Ser | |
| NM_033508.1:c.598G>T | NP_277043.1:p.Ala200Ser | |
| NM_000162.4:c.601G>T | NP_000153.1:p.Ala201Ser | |
| NM_001354800.1:c.601G>T | NP_001341729.1:p.Ala201Ser | |
| NM_033507.2:c.604G>T | NP_277042.1:p.Ala202Ser | |
| NM_033508.2:c.598G>T | NP_277043.1:p.Ala200Ser | |
| NM_000162.5:c.601G>T MANE Select | NP_000153.1:p.Ala201Ser | |
| NM_033507.3:c.604G>T | NP_277042.1:p.Ala202Ser | |
| NM_033508.3:c.598G>T | NP_277043.1:p.Ala200Ser |