Linked Data
ClinVar Variation Id:
2540338
ClinVar RCV Id:
RCV004311718
dbSNP Id:
rs779733191
ExAC:
8:28017760 G / C
gnomAD v2:
8-28017760-G-C
gnomAD v3:
8-28160243-G-C
gnomAD v4:
8-28160243-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.28160243G>C , CM000670.2:g.28160243G>C | GRCh38 |
| NC_000008.10:g.28017760G>C , CM000670.1:g.28017760G>C | GRCh37 |
| NC_000008.9:g.28073679G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256398.13:c.1272G>C MANE Select | ENSP00000256398.8:p.Arg424Ser | |
| ENST00000256398.12:c.1272G>C | ENSP00000256398.8:p.Arg424Ser | |
| ENST00000380353.8:c.996G>C | ENSP00000369711.4:p.Arg332Ser | |
| ENST00000517975.1:c.51G>C | ENSP00000430942.1:p.Arg17Ser | |
| ENST00000518112.5:c.*995G>C | ENSP00000429465.1:n.*995G>C | |
| ENST00000519261.5:c.*866G>C | ENSP00000428357.1:n.*866G>C | |
| ENST00000521015.5:c.1230G>C | ENSP00000428449.1:p.Arg410Ser | |
| ENST00000523357.5:c.69G>C | ENSP00000427833.1:p.Arg23Ser | |
| ENST00000523687.5:c.*931G>C | ENSP00000430253.1:n.*931G>C | |
| ENST00000524103.5:c.1056G>C | ENSP00000429180.1:p.Arg352Ser | |
| ENST00000537665.2:c.915G>C | ENSP00000445558.1:p.Arg305Ser | |
| NM_001284220.1:c.1056G>C | NP_001271149.1:p.Arg352Ser | |
| NM_001284222.1:c.1230G>C | NP_001271151.1:p.Arg410Ser | |
| NM_001284224.1:c.915G>C | NP_001271153.1:p.Arg305Ser | |
| NM_001284225.1:c.915G>C | NP_001271154.1:p.Arg305Ser | |
| NM_001284226.1:c.996G>C | NP_001271155.1:p.Arg332Ser | |
| NM_018091.5:c.1272G>C | NP_060561.3:p.Arg424Ser | |
| XM_006716354.1:c.915G>C | XP_006716417.1:p.Arg305Ser | |
| XM_006716354.3:c.915G>C | XP_006716417.1:p.Arg305Ser | |
| XM_017013604.2:c.1272G>C | XP_016869093.1:p.Arg424Ser | |
| XM_024447184.1:c.1230G>C | XP_024302952.1:p.Arg410Ser | |
| XM_024447185.1:c.1056G>C | XP_024302953.1:p.Arg352Ser | |
| NM_018091.6:c.1272G>C MANE Select | NP_060561.3:p.Arg424Ser | |
| NM_001284220.2:c.1056G>C | NP_001271149.1:p.Arg352Ser | |
| NM_001284222.2:c.1230G>C | NP_001271151.1:p.Arg410Ser | |
| NM_001284224.2:c.915G>C | NP_001271153.1:p.Arg305Ser | |
| NM_001284225.2:c.915G>C | NP_001271154.1:p.Arg305Ser | |
| NM_001284226.2:c.996G>C | NP_001271155.1:p.Arg332Ser |