Linked Data
ClinVar Variation Id:
379907
ClinVar RCV Id:
RCV000424651
RCV000712375
RCV001164018
RCV001173724
RCV001081907
RCV002418263
RCV003922734
dbSNP Id:
rs61755062
ExAC:
8:134260136 C / T
gnomAD v2:
8-134260136-C-T
gnomAD v3:
8-133247893-C-T
gnomAD v4:
8-133247893-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133247893C>T , CM000670.2:g.133247893C>T | GRCh38 |
| NC_000008.10:g.134260136C>T , CM000670.1:g.134260136C>T | GRCh37 |
| NC_000008.9:g.134329318C>T | NCBI36 |
| NG_007943.1:g.54363G>A , LRG_258:g.54363G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323851.13:c.789G>A MANE Select | ENSP00000319977.8:p.Ser263= | |
| ENST00000537882.3:c.789G>A | ENSP00000437443.2:p.Ser263= | |
| ENST00000674521.1:c.34G>A | ||
| ENST00000675036.1:n.34G>A | ||
| ENST00000675068.1:c.57+822G>A | ||
| ENST00000675860.1:n.554G>A | ||
| ENST00000676341.1:n.34G>A | ||
| ENST00000323851.11:c.789G>A | ENSP00000319977.7:p.Ser263= | |
| ENST00000414097.6:c.789G>A | ENSP00000404854.2:p.Ser263= | |
| ENST00000517331.5:n.507G>A | ||
| ENST00000517599.5:c.*395G>A | ENSP00000429172.1:n.*395G>A | |
| ENST00000518066.5:c.37-5837G>A | ENSP00000431057.1:n.37-5837G>A | |
| ENST00000518176.5:c.49-1230G>A | ENSP00000429007.1:n.49-1230G>A | |
| ENST00000519278.5:n.1885G>A | ||
| ENST00000521414.5:n.251G>A | ||
| ENST00000521664.1:n.539G>A | ||
| ENST00000522377.5:c.*269G>A | ENSP00000429380.1:n.*269G>A | |
| ENST00000522476.5:c.591G>A | ENSP00000427894.1:p.Ser197= | |
| ENST00000522665.5:n.112G>A | ||
| ENST00000537882.2:c.546G>A | ENSP00000437443.1:p.Ser182= | |
| NM_001135242.1:c.789G>A | NP_001128714.1:p.Ser263= | |
| NM_001258432.1:c.591G>A | NP_001245361.1:p.Ser197= | |
| NM_001258433.1:c.546G>A | NP_001245362.1:p.Ser182= | |
| NM_006096.3:c.789G>A , LRG_258t1:c.789G>A | NP_006087.2:p.Ser263= | |
| XM_011516791.1:c.840G>A | XP_011515093.1:p.Ser280= | |
| XM_011516792.1:c.222G>A | XP_011515094.1:p.Ser74= | |
| XM_011516792.2:c.222G>A | XP_011515094.1:p.Ser74= | |
| NM_001135242.2:c.789G>A | NP_001128714.1:p.Ser263= | |
| NM_001258432.2:c.591G>A | NP_001245361.1:p.Ser197= | |
| NM_001258433.2:c.546G>A | NP_001245362.1:p.Ser182= | |
| NM_001374844.1:c.840G>A | NP_001361773.1:p.Ser280= | |
| NM_001374845.1:c.789G>A | NP_001361774.1:p.Ser263= | |
| NM_001374846.1:c.789G>A | NP_001361775.1:p.Ser263= | |
| NM_001374847.1:c.591G>A | NP_001361776.1:p.Ser197= | |
| NM_006096.4:c.789G>A MANE Select | NP_006087.2:p.Ser263= |