Linked Data
ClinVar Variation Id:
3180535
ClinVar RCV Id:
RCV004475419
dbSNP Id:
rs772439230
ExAC:
19:55652652 T / A
gnomAD v2:
19-55652652-T-A
gnomAD v4:
19-55141284-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55141284T>A , CM000681.2:g.55141284T>A | GRCh38 |
| NC_000019.9:g.55652652T>A , CM000681.1:g.55652652T>A | GRCh37 |
| NC_000019.8:g.60344464T>A | NCBI36 |
| NG_011829.2:g.12955A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588981.6:c.211A>T MANE Select | ENSP00000467176.1:p.Met71Leu | |
| ENST00000291901.12:c.211A>T | ENSP00000291901.8:p.Met71Leu | |
| ENST00000356783.9:c.178A>T | ENSP00000349233.4:p.Met60Leu | |
| ENST00000536926.5:c.1A>T | ENSP00000439640.2:p.Met1Leu | |
| ENST00000585321.6:c.1A>T | ENSP00000467980.2:p.Met1Leu | |
| ENST00000587089.6:c.263A>T | ||
| ENST00000587465.6:c.1A>T | ENSP00000464843.2:p.Met1Leu | |
| ENST00000587758.5:c.178A>T | ENSP00000467789.1:p.Met60Leu | |
| ENST00000588147.5:c.199A>T | ENSP00000467299.1:p.Met67Leu | |
| ENST00000588426.5:c.49-372A>T | ENSP00000465991.1:n.49-372A>T | |
| ENST00000588981.5:c.211A>T | ENSP00000467176.1:p.Met71Leu | |
| ENST00000589226.5:c.178A>T | ENSP00000470854.1:p.Met60Leu | |
| ENST00000592920.5:n.289A>T | ||
| ENST00000593046.5:c.211A>T | ENSP00000470777.1:p.Met71Leu | |
| ENST00000593194.5:c.54A>T | ||
| NM_001126132.2:c.211A>T | NP_001119604.1:p.Met71Leu | |
| NM_001126133.2:c.178A>T | NP_001119605.1:p.Met60Leu | |
| NM_001291774.1:c.178A>T | NP_001278703.1:p.Met60Leu | |
| NM_003283.5:c.211A>T | NP_003274.3:p.Met71Leu | |
| XM_006723343.2:c.247A>T | XP_006723406.1:p.Met83Leu | |
| XM_011527243.1:c.235A>T | XP_011525545.1:p.Met79Leu | |
| XM_011527244.1:c.214A>T | XP_011525546.1:p.Met72Leu | |
| XM_011527245.1:c.211A>T | XP_011525547.1:p.Met71Leu | |
| XM_011527246.1:c.199A>T | XP_011525548.1:p.Met67Leu | |
| XM_011527246.3:c.199A>T | XP_011525548.1:p.Met67Leu | |
| XM_017027186.1:c.211A>T | XP_016882675.1:p.Met71Leu | |
| XM_017027187.1:c.199A>T | XP_016882676.1:p.Met67Leu | |
| NM_003283.6:c.211A>T MANE Select | NP_003274.3:p.Met71Leu | |
| NM_001126132.3:c.211A>T | NP_001119604.1:p.Met71Leu | |
| NM_001126133.3:c.178A>T | NP_001119605.1:p.Met60Leu | |
| NM_001291774.2:c.178A>T | NP_001278703.1:p.Met60Leu |