Linked Data
ClinVar Variation Id:
229080
ClinVar RCV Id:
RCV000217087
dbSNP Id:
rs764461086
ExAC:
2:26690332 C / A
gnomAD v2:
2-26690332-C-A
gnomAD v3:
2-26467464-C-A
gnomAD v4:
2-26467464-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26467464C>A , CM000664.2:g.26467464C>A | GRCh38 |
| NC_000002.11:g.26690332C>A , CM000664.1:g.26690332C>A | GRCh37 |
| NC_000002.10:g.26543836C>A | NCBI36 |
| NG_009937.1:g.96235G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.4128G>T MANE Select | ENSP00000272371.2:p.Arg1376Ser | |
| ENST00000339598.8:c.1827G>T MANE Plus Clinical | ENSP00000344521.3:p.Arg609Ser | |
| ENST00000402415.8:c.1887G>T | ENSP00000383906.4:p.Arg629Ser | |
| ENST00000272371.6:c.4128G>T | ENSP00000272371.2:p.Arg1376Ser | |
| ENST00000338581.10:c.1827G>T | ENSP00000345137.6:p.Arg609Ser | |
| ENST00000339598.7:c.1827G>T | ENSP00000344521.3:p.Arg609Ser | |
| ENST00000402415.7:c.2058G>T | ENSP00000383906.3:p.Arg686Ser | |
| ENST00000403946.7:c.4128G>T | ENSP00000385255.3:p.Arg1376Ser | |
| NM_001287489.1:c.4128G>T | NP_001274418.1:p.Arg1376Ser | |
| NM_004802.3:c.1827G>T | NP_004793.2:p.Arg609Ser | |
| NM_194248.2:c.4128G>T | NP_919224.1:p.Arg1376Ser | |
| NM_194322.2:c.2058G>T | NP_919303.1:p.Arg686Ser | |
| NM_194323.2:c.1827G>T | NP_919304.1:p.Arg609Ser | |
| XM_005264644.2:c.4113G>T | XP_005264701.1:p.Arg1371Ser | |
| XM_011533185.1:c.4173G>T | XP_011531487.1:p.Arg1391Ser | |
| XM_017005338.1:c.4068G>T | XP_016860827.1:p.Arg1356Ser | |
| NM_001287489.2:c.4128G>T | NP_001274418.1:p.Arg1376Ser | |
| NM_004802.4:c.1827G>T | NP_004793.2:p.Arg609Ser | |
| NM_194248.3:c.4128G>T MANE Select | NP_919224.1:p.Arg1376Ser | |
| NM_194322.3:c.2058G>T | NP_919303.1:p.Arg686Ser | |
| NM_194323.3:c.1827G>T MANE Plus Clinical | NP_919304.1:p.Arg609Ser |