Linked Data
ClinVar Variation Id:
337309
dbSNP Id:
rs756571077
ExAC:
2:85892751 G / A
gnomAD v2:
2-85892751-G-A
gnomAD v3:
2-85665628-G-A
gnomAD v4:
2-85665628-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85665628G>A , CM000664.2:g.85665628G>A | GRCh38 |
| NC_000002.11:g.85892751G>A , CM000664.1:g.85892751G>A | GRCh37 |
| NC_000002.10:g.85746262G>A | NCBI36 |
| NG_016967.1:g.8114C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409383.6:c.560C>T | ENSP00000386346.2:p.Ala187Val | |
| ENST00000519937.7:c.560C>T MANE Select | ENSP00000428719.2:p.Ala187Val | |
| ENST00000393822.7:c.560C>T | ENSP00000377409.4:p.Ala187Val | |
| ENST00000409383.5:c.596C>T | ENSP00000386346.1:p.Ala199Val | |
| ENST00000428225.5:c.549C>T | ||
| ENST00000519937.6:c.560C>T | ENSP00000428719.2:p.Ala187Val | |
| NM_000542.3:c.596C>T | NP_000533.3:p.Ala199Val | |
| NM_198843.2:c.596C>T | NP_942140.2:p.Ala199Val | |
| XM_005264487.2:c.596C>T | XP_005264544.1:p.Ala199Val | |
| XM_005264488.2:c.560C>T | XP_005264545.2:p.Ala187Val | |
| XM_005264490.3:c.560C>T | XP_005264547.2:p.Ala187Val | |
| XM_005264488.4:c.560C>T | XP_005264545.2:p.Ala187Val | |
| XM_005264490.4:c.560C>T | XP_005264547.2:p.Ala187Val | |
| NM_000542.4:c.560C>T | NP_000533.4:p.Ala187Val | |
| NM_001367281.1:c.560C>T | NP_001354210.1:p.Ala187Val | |
| NM_198843.3:c.560C>T | NP_942140.3:p.Ala187Val | |
| NM_000542.5:c.560C>T MANE Select | NP_000533.4:p.Ala187Val |