Linked Data
ClinVar Variation Id:
336194
ClinVar RCV Id:
RCV000277152
dbSNP Id:
rs139310305
ExAC:
2:44513193 G / C
gnomAD v2:
2-44513193-G-C
gnomAD v3:
2-44286054-G-C
gnomAD v4:
2-44286054-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44286054G>C , CM000664.2:g.44286054G>C | GRCh38 |
| NC_000002.11:g.44513193G>C , CM000664.1:g.44513193G>C | GRCh37 |
| NC_000002.10:g.44366697G>C | NCBI36 |
| NG_008233.1:g.15597G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260649.11:c.788G>C MANE Select | ENSP00000260649.6:p.Ser263Thr | |
| ENST00000649044.1:c.*799G>C | ENSP00000497083.1:n.*799G>C | |
| ENST00000260649.10:c.788G>C | ENSP00000260649.6:p.Ser263Thr | |
| ENST00000409229.7:c.788G>C | ENSP00000386620.3:p.Ser263Thr | |
| ENST00000409380.5:c.-47G>C | ENSP00000386709.1:n.-47G>C | |
| ENST00000409387.5:c.788G>C | ENSP00000387308.1:p.Ser263Thr | |
| ENST00000409741.5:c.788G>C | ENSP00000386954.1:p.Ser263Thr | |
| ENST00000410056.7:c.788G>C | ENSP00000387337.3:p.Ser263Thr | |
| ENST00000427285.1:c.122G>C | ENSP00000391642.1:p.Ser41Thr | |
| ENST00000611973.4:c.788G>C | ENSP00000483618.1:p.Ser263Thr | |
| NM_000341.3:c.788G>C | NP_000332.2:p.Ser263Thr | |
| XM_011533047.1:c.788G>C | XP_011531349.1:p.Ser263Thr | |
| XM_011533047.3:c.788G>C | XP_011531349.1:p.Ser263Thr | |
| NM_000341.4:c.788G>C MANE Select | NP_000332.2:p.Ser263Thr |