Linked Data
ClinVar Variation Id:
468279
dbSNP Id:
rs368273709
ExAC:
2:74598161 C / A
gnomAD v2:
2-74598161-C-A
gnomAD v3:
2-74371034-C-A
gnomAD v4:
2-74371034-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74371034C>A , CM000664.2:g.74371034C>A | GRCh38 |
| NC_000002.11:g.74598161C>A , CM000664.1:g.74598161C>A | GRCh37 |
| NC_000002.10:g.74451669C>A | NCBI36 |
| NG_008735.2:g.26054G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361874.8:c.788G>T | ENSP00000354791.4:p.Ser263Ile | |
| ENST00000628224.3:c.788G>T MANE Select | ENSP00000487279.2:p.Ser263Ile | |
| ENST00000680606.1:c.737G>T | ENSP00000505612.1:p.Ser246Ile | |
| ENST00000361874.7:c.788G>T | ENSP00000354791.3:p.Ser263Ile | |
| ENST00000394003.7:c.767G>T | ENSP00000377571.3:p.Ser256Ile | |
| ENST00000409240.5:c.677G>T | ENSP00000386406.1:p.Ser226Ile | |
| ENST00000409438.5:c.386G>T | ENSP00000387270.1:p.Ser129Ile | |
| ENST00000409567.7:c.728G>T | ENSP00000386843.3:p.Ser243Ile | |
| ENST00000409868.5:c.737G>T | ENSP00000387327.1:p.Ser246Ile | |
| ENST00000434055.5:c.677G>T | ENSP00000416711.1:p.Ser226Ile | |
| ENST00000463583.5:n.541G>T | ||
| ENST00000466110.5:n.1009G>T | ||
| ENST00000470351.1:n.502G>T | ||
| ENST00000628224.2:c.737G>T | ENSP00000487279.1:p.Ser246Ile | |
| ENST00000633691.1:c.386G>T | ENSP00000487724.1:p.Ser129Ile | |
| NM_001135040.2:c.728G>T | NP_001128512.1:p.Ser243Ile | |
| NM_001135041.2:c.386G>T | NP_001128513.1:p.Ser129Ile | |
| NM_001190836.1:c.677G>T | NP_001177765.1:p.Ser226Ile | |
| NM_001190837.1:c.767G>T | NP_001177766.1:p.Ser256Ile | |
| NM_004082.4:c.788G>T | NP_004073.2:p.Ser263Ile | |
| NM_023019.3:c.386G>T | NP_075408.1:p.Ser129Ile | |
| NR_033935.1:n.989G>T | ||
| NM_001135040.3:c.728G>T | NP_001128512.1:p.Ser243Ile | |
| NM_001135041.3:c.386G>T | NP_001128513.1:p.Ser129Ile | |
| NM_001190836.2:c.677G>T | NP_001177765.1:p.Ser226Ile | |
| NM_001190837.2:c.767G>T | NP_001177766.1:p.Ser256Ile | |
| NM_001378991.1:c.737G>T | NP_001365920.1:p.Ser246Ile | |
| NM_001378992.1:c.719G>T | NP_001365921.1:p.Ser240Ile | |
| NM_004082.5:c.788G>T MANE Select | NP_004073.2:p.Ser263Ile | |
| NM_023019.4:c.386G>T | NP_075408.1:p.Ser129Ile | |
| NR_033935.2:n.768G>T |