Linked Data
ClinVar Variation Id:
195371
dbSNP Id:
rs149711133
ExAC:
1:156124453 G / A
gnomAD v2:
1-156124453-G-A
gnomAD v3:
1-156154662-G-A
gnomAD v4:
1-156154662-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156154662G>A , CM000663.2:g.156154662G>A | GRCh38 |
| NC_000001.10:g.156124453G>A , CM000663.1:g.156124453G>A | GRCh37 |
| NC_000001.9:g.154391077G>A | NCBI36 |
| NG_027683.1:g.9719G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368285.8:c.84G>A MANE Select | ENSP00000357268.3:p.Thr28= | |
| ENST00000355014.6:c.84G>A | ENSP00000347117.2:p.Thr28= | |
| ENST00000368282.1:c.84G>A | ENSP00000357265.1:p.Thr28= | |
| ENST00000368284.5:c.-159+898G>A | ENSP00000357267.1:n.-159+898G>A | |
| ENST00000368285.7:c.84G>A | ENSP00000357268.3:p.Thr28= | |
| ENST00000368286.6:c.-6-25G>A | ENSP00000357269.3:n.-6-25G>A | |
| ENST00000414683.5:c.-158-1752G>A | ENSP00000399230.1:n.-158-1752G>A | |
| ENST00000435124.5:c.84G>A | ENSP00000401391.1:p.Thr28= | |
| ENST00000438830.5:c.84G>A | ENSP00000392865.1:p.Thr28= | |
| ENST00000485575.1:n.174G>A | ||
| ENST00000633494.1:c.84G>A | ENSP00000487730.1:p.Thr28= | |
| NM_001193300.1:c.84G>A | NP_001180229.1:p.Thr28= | |
| NM_001193301.1:c.84G>A | NP_001180230.1:p.Thr28= | |
| NM_001193302.1:c.-159+898G>A | NP_001180231.1:n.-159+898G>A | |
| NM_022367.3:c.84G>A | NP_071762.2:p.Thr28= | |
| XM_011509871.1:c.26-1752G>A | XP_011508173.1:n.26-1752G>A | |
| XM_011509872.1:c.84G>A | XP_011508174.1:p.Thr28= | |
| XM_011509873.1:c.84G>A | XP_011508175.1:p.Thr28= | |
| XM_011509874.1:c.-159+898G>A | XP_011508176.1:n.-159+898G>A | |
| XM_011509875.1:c.-159+907G>A | XP_011508177.1:n.-159+907G>A | |
| XM_011509876.1:c.-158-1752G>A | XP_011508178.1:n.-158-1752G>A | |
| XM_011509877.1:c.-158-1752G>A | XP_011508179.1:n.-158-1752G>A | |
| XM_011509878.1:c.-158-1752G>A | XP_011508180.1:n.-158-1752G>A | |
| XM_011509871.3:c.26-1752G>A | XP_011508173.1:n.26-1752G>A | |
| XM_011509872.2:c.84G>A | XP_011508174.1:p.Thr28= | |
| XM_011509873.2:c.84G>A | XP_011508175.1:p.Thr28= | |
| XM_011509874.2:c.-159+898G>A | XP_011508176.1:n.-159+898G>A | |
| XM_011509875.3:c.-159+907G>A | XP_011508177.1:n.-159+907G>A | |
| XM_011509876.2:c.-158-1752G>A | XP_011508178.1:n.-158-1752G>A | |
| XM_011509878.2:c.-158-1752G>A | XP_011508180.1:n.-158-1752G>A | |
| XM_011509879.2:c.-385-1752G>A | XP_011508181.1:n.-385-1752G>A | |
| XM_017002056.1:c.84G>A | XP_016857545.1:p.Thr28= | |
| XM_017002057.1:c.-441G>A | XP_016857546.1:n.-441G>A | |
| NM_022367.4:c.84G>A MANE Select | NP_071762.2:p.Thr28= | |
| NM_001193300.2:c.84G>A | NP_001180229.1:p.Thr28= | |
| NM_001370567.1:c.84G>A | NP_001357496.1:p.Thr28= | |
| NM_001370568.1:c.-158-1752G>A | NP_001357497.1:n.-158-1752G>A | |
| NM_001370569.1:c.-385-1752G>A | NP_001357498.1:n.-385-1752G>A | |
| NM_001370571.1:c.-441G>A | NP_001357500.1:n.-441G>A | |
| NM_001193301.2:c.84G>A | NP_001180230.1:p.Thr28= | |
| NM_001193302.2:c.-159+898G>A | NP_001180231.1:n.-159+898G>A |