Linked Data
ClinVar Variation Id:
213939
ClinVar RCV Id:
RCV000198358
RCV000253449
RCV000323333
RCV000380176
RCV000766907
RCV003996930
RCV004020382
dbSNP Id:
rs768385200
ExAC:
3:30691865 A / T
gnomAD v2:
3-30691865-A-T
gnomAD v3:
3-30650373-A-T
gnomAD v4:
3-30650373-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30650373A>T , CM000665.2:g.30650373A>T | GRCh38 |
| NC_000003.11:g.30691865A>T , CM000665.1:g.30691865A>T | GRCh37 |
| NC_000003.10:g.30666869A>T | NCBI36 |
| NG_007490.1:g.48872A>T , LRG_779:g.48872A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.367A>T MANE Select | ENSP00000295754.5:p.Met123Leu | |
| ENST00000672866.1:n.1963A>T | ||
| ENST00000673250.1:n.491A>T | ||
| ENST00000295754.9:c.367A>T | ENSP00000295754.5:p.Met123Leu | |
| ENST00000359013.4:c.442A>T | ENSP00000351905.4:p.Met148Leu | |
| NM_001024847.2:c.442A>T , LRG_779t1:c.442A>T | NP_001020018.1:p.Met148Leu | |
| NM_003242.5:c.367A>T | NP_003233.4:p.Met123Leu | |
| XM_011534043.1:c.394A>T | XP_011532345.1:p.Met132Leu | |
| XM_011534044.1:c.319A>T | XP_011532346.1:p.Met107Leu | |
| XM_011534045.1:c.262A>T | XP_011532347.1:p.Met88Leu | |
| XM_011534043.2:c.394A>T | XP_011532345.1:p.Met132Leu | |
| XM_011534045.3:c.262A>T | XP_011532347.1:p.Met88Leu | |
| XM_017007106.1:c.262A>T | XP_016862595.1:p.Met88Leu | |
| NM_003242.6:c.367A>T MANE Select | NP_003233.4:p.Met123Leu |