Linked Data
ClinVar Variation Id:
431175
dbSNP Id:
rs747574524
gnomAD v4:
4-139137692-C-T
PubMed:
PMID:27876815
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139137692C>T , CM000666.2:g.139137692C>T | GRCh38 |
| NC_000004.11:g.140058846C>T , CM000666.1:g.140058846C>T | GRCh37 |
| NC_000004.10:g.140278296C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686138.1:c.10G>A MANE Select | ENSP00000510098.1:p.Ala4Thr | |
| ENST00000379550.5:c.10G>A | ENSP00000368868.1:p.Ala4Thr | |
| ENST00000394235.6:c.10G>A | ENSP00000377782.1:p.Ala4Thr | |
| ENST00000511006.1:n.513G>A | ||
| ENST00000511184.5:c.10G>A | ENSP00000421278.1:p.Ala4Thr | |
| NM_201999.2:c.10G>A | NP_973728.1:p.Ala4Thr | |
| XM_005262803.1:c.10G>A | XP_005262860.1:p.Ala4Thr | |
| XM_005262804.1:c.10G>A | XP_005262861.1:p.Ala4Thr | |
| XM_005262805.1:c.10G>A | XP_005262862.1:p.Ala4Thr | |
| XM_006714128.1:c.10G>A | XP_006714191.1:p.Ala4Thr | |
| XM_011531710.1:c.-584G>A | XP_011530012.1:n.-584G>A | |
| XM_011531712.1:c.-137G>A | XP_011530014.1:n.-137G>A | |
| NM_001331036.1:c.10G>A | NP_001317965.1:p.Ala4Thr | |
| XM_005262804.2:c.10G>A | XP_005262861.1:p.Ala4Thr | |
| XM_005262805.2:c.10G>A | XP_005262862.1:p.Ala4Thr | |
| XM_006714128.2:c.10G>A | XP_006714191.1:p.Ala4Thr | |
| XM_024453918.1:c.-584G>A | XP_024309686.1:n.-584G>A | |
| XM_024453919.1:c.-406G>A | XP_024309687.1:n.-406G>A | |
| XM_024453920.1:c.-137G>A | XP_024309688.1:n.-137G>A | |
| XM_024453921.1:c.-462G>A | XP_024309689.1:n.-462G>A | |
| XM_024453922.1:c.-406G>A | XP_024309690.1:n.-406G>A | |
| XM_024453923.1:c.-462G>A | XP_024309691.1:n.-462G>A | |
| XM_024453924.1:c.-406G>A | XP_024309692.1:n.-406G>A | |
| XM_024453925.1:c.-462G>A | XP_024309693.1:n.-462G>A | |
| XM_024453926.1:c.-584G>A | XP_024309694.1:n.-584G>A | |
| XM_024453927.1:c.-406G>A | XP_024309695.1:n.-406G>A | |
| NM_001331036.2:c.10G>A | NP_001317965.1:p.Ala4Thr | |
| NM_001371324.1:c.10G>A | NP_001358253.1:p.Ala4Thr | |
| NM_001371336.1:c.10G>A | NP_001358265.1:p.Ala4Thr | |
| NM_001371337.1:c.-462G>A | NP_001358266.1:n.-462G>A | |
| NM_001371338.1:c.-462G>A | NP_001358267.1:n.-462G>A | |
| NM_001371339.1:c.-406G>A | NP_001358268.1:n.-406G>A | |
| NM_201999.3:c.10G>A | NP_973728.1:p.Ala4Thr | |
| NM_001331036.3:c.10G>A MANE Select | NP_001317965.1:p.Ala4Thr |