Linked Data
ClinVar Variation Id:
968006
ClinVar RCV Id:
RCV003469463
dbSNP Id:
rs765011829
ExAC:
1:21890636 T / C
gnomAD v2:
1-21890636-T-C
gnomAD v3:
1-21564143-T-C
gnomAD v4:
1-21564143-T-C
COSMIC:
COSM1660509
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21564143T>C , CM000663.2:g.21564143T>C | GRCh38 |
| NC_000001.10:g.21890636T>C , CM000663.1:g.21890636T>C | GRCh37 |
| NC_000001.9:g.21763223T>C | NCBI36 |
| NG_008940.1:g.59779T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374840.8:c.575T>C MANE Select | ENSP00000363973.3:p.Met192Thr | |
| ENST00000374832.5:c.575T>C | ENSP00000363965.1:p.Met192Thr | |
| ENST00000374840.7:c.575T>C | ENSP00000363973.3:p.Met192Thr | |
| ENST00000468526.1:n.635T>C | ||
| ENST00000539907.5:c.344T>C | ENSP00000437674.1:p.Met115Thr | |
| ENST00000540617.5:c.410T>C | ENSP00000442672.1:p.Met137Thr | |
| NM_000478.4:c.575T>C | NP_000469.3:p.Met192Thr | |
| NM_001127501.2:c.410T>C | NP_001120973.2:p.Met137Thr | |
| NM_001177520.1:c.344T>C | NP_001170991.1:p.Met115Thr | |
| XM_005245818.1:c.575T>C | XP_005245875.1:p.Met192Thr | |
| XM_005245820.2:c.575T>C | XP_005245877.1:p.Met192Thr | |
| XM_006710546.1:c.575T>C | XP_006710609.1:p.Met192Thr | |
| NM_000478.5:c.575T>C | NP_000469.3:p.Met192Thr | |
| NM_001127501.3:c.410T>C | NP_001120973.2:p.Met137Thr | |
| NM_001177520.2:c.344T>C | NP_001170991.1:p.Met115Thr | |
| XM_006710546.3:c.575T>C | XP_006710609.1:p.Met192Thr | |
| XM_017000903.1:c.419T>C | XP_016856392.1:p.Met140Thr | |
| NM_000478.6:c.575T>C MANE Select | NP_000469.3:p.Met192Thr | |
| NM_001127501.4:c.410T>C | NP_001120973.2:p.Met137Thr | |
| NM_001177520.3:c.344T>C | NP_001170991.1:p.Met115Thr | |
| NM_001369803.2:c.575T>C | NP_001356732.1:p.Met192Thr | |
| NM_001369804.2:c.575T>C | NP_001356733.1:p.Met192Thr | |
| NM_001369805.2:c.575T>C | NP_001356734.1:p.Met192Thr |