Linked Data
ClinVar Variation Id:
336189
ClinVar RCV Id:
RCV000302526
dbSNP Id:
rs150870922
ExAC:
2:44503091 C / T
gnomAD v2:
2-44503091-C-T
gnomAD v3:
2-44275952-C-T
gnomAD v4:
2-44275952-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44275952C>T , CM000664.2:g.44275952C>T | GRCh38 |
| NC_000002.11:g.44503091C>T , CM000664.1:g.44503091C>T | GRCh37 |
| NC_000002.10:g.44356595C>T | NCBI36 |
| NG_008233.1:g.5495C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260649.11:c.417C>T MANE Select | ENSP00000260649.6:p.Asn139= | |
| ENST00000649044.1:c.*428C>T | ENSP00000497083.1:n.*428C>T | |
| ENST00000260649.10:c.417C>T | ENSP00000260649.6:p.Asn139= | |
| ENST00000409229.7:c.417C>T | ENSP00000386620.3:p.Asn139= | |
| ENST00000409387.5:c.417C>T | ENSP00000387308.1:p.Asn139= | |
| ENST00000409741.5:c.417C>T | ENSP00000386954.1:p.Asn139= | |
| ENST00000410056.7:c.417C>T | ENSP00000387337.3:p.Asn139= | |
| ENST00000611973.4:c.417C>T | ENSP00000483618.1:p.Asn139= | |
| NM_000341.3:c.417C>T | NP_000332.2:p.Asn139= | |
| XM_011533047.1:c.417C>T | XP_011531349.1:p.Asn139= | |
| XM_011533047.3:c.417C>T | XP_011531349.1:p.Asn139= | |
| NM_000341.4:c.417C>T MANE Select | NP_000332.2:p.Asn139= |