Linked Data
ClinVar Variation Id:
196577
dbSNP Id:
rs199520071
ExAC:
2:27601614 G / A
gnomAD v2:
2-27601614-G-A
gnomAD v3:
2-27378747-G-A
gnomAD v4:
2-27378747-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27378747G>A , CM000664.2:g.27378747G>A | GRCh38 |
| NC_000002.11:g.27601614G>A , CM000664.1:g.27601614G>A | GRCh37 |
| NC_000002.10:g.27455118G>A | NCBI36 |
| NG_028219.1:g.6998C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323703.11:c.519C>T MANE Select | ENSP00000318373.6:p.Ser173= | |
| ENST00000323703.10:c.519C>T | ENSP00000318373.6:p.Ser173= | |
| ENST00000407879.1:c.333C>T | ENSP00000384874.1:p.Ser111= | |
| ENST00000436006.1:c.333C>T | ENSP00000394226.1:p.Ser111= | |
| ENST00000491924.1:n.111-132C>T | ||
| NM_001201459.1:c.333C>T | NP_001188388.1:p.Ser111= | |
| NM_144631.5:c.519C>T | NP_653232.3:p.Ser173= | |
| XM_005264142.1:c.333C>T | XP_005264199.1:p.Ser111= | |
| XM_005264143.2:c.15C>T | XP_005264200.1:p.Ser5= | |
| XM_005264142.2:c.333C>T | XP_005264199.1:p.Ser111= | |
| XM_005264143.3:c.15C>T | XP_005264200.1:p.Ser5= | |
| NM_144631.6:c.519C>T MANE Select | NP_653232.3:p.Ser173= | |
| NM_001201459.2:c.333C>T | NP_001188388.1:p.Ser111= |