Linked Data
ClinVar Variation Id:
188798
ClinVar RCV Id:
RCV000169128
RCV000729215
RCV001196302
RCV002265652
RCV002505222
RCV002516529
RCV003462265
dbSNP Id:
rs199590449
ExAC:
1:21890603 C / T
gnomAD v2:
1-21890603-C-T
gnomAD v3:
1-21564110-C-T
gnomAD v4:
1-21564110-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21564110C>T , CM000663.2:g.21564110C>T | GRCh38 |
| NC_000001.10:g.21890603C>T , CM000663.1:g.21890603C>T | GRCh37 |
| NC_000001.9:g.21763190C>T | NCBI36 |
| NG_008940.1:g.59746C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374840.8:c.542C>T MANE Select | ENSP00000363973.3:p.Ser181Leu | |
| ENST00000374832.5:c.542C>T | ENSP00000363965.1:p.Ser181Leu | |
| ENST00000374840.7:c.542C>T | ENSP00000363973.3:p.Ser181Leu | |
| ENST00000468526.1:n.602C>T | ||
| ENST00000539907.5:c.311C>T | ENSP00000437674.1:p.Ser104Leu | |
| ENST00000540617.5:c.377C>T | ENSP00000442672.1:p.Ser126Leu | |
| NM_000478.4:c.542C>T | NP_000469.3:p.Ser181Leu | |
| NM_001127501.2:c.377C>T | NP_001120973.2:p.Ser126Leu | |
| NM_001177520.1:c.311C>T | NP_001170991.1:p.Ser104Leu | |
| XM_005245818.1:c.542C>T | XP_005245875.1:p.Ser181Leu | |
| XM_005245820.2:c.542C>T | XP_005245877.1:p.Ser181Leu | |
| XM_006710546.1:c.542C>T | XP_006710609.1:p.Ser181Leu | |
| NM_000478.5:c.542C>T | NP_000469.3:p.Ser181Leu | |
| NM_001127501.3:c.377C>T | NP_001120973.2:p.Ser126Leu | |
| NM_001177520.2:c.311C>T | NP_001170991.1:p.Ser104Leu | |
| XM_006710546.3:c.542C>T | XP_006710609.1:p.Ser181Leu | |
| XM_017000903.1:c.386C>T | XP_016856392.1:p.Ser129Leu | |
| NM_000478.6:c.542C>T MANE Select | NP_000469.3:p.Ser181Leu | |
| NM_001127501.4:c.377C>T | NP_001120973.2:p.Ser126Leu | |
| NM_001177520.3:c.311C>T | NP_001170991.1:p.Ser104Leu | |
| NM_001369803.2:c.542C>T | NP_001356732.1:p.Ser181Leu | |
| NM_001369804.2:c.542C>T | NP_001356733.1:p.Ser181Leu | |
| NM_001369805.2:c.542C>T | NP_001356734.1:p.Ser181Leu |