Linked Data
ClinVar Variation Id:
213946
dbSNP Id:
rs370708687
gnomAD v3:
3-30691441-A-T
gnomAD v4:
3-30691441-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30691441A>T , CM000665.2:g.30691441A>T | GRCh38 |
| NC_000003.11:g.30732933A>T , CM000665.1:g.30732933A>T | GRCh37 |
| NC_000003.10:g.30707937A>T | NCBI36 |
| NG_007490.1:g.89940A>T , LRG_779:g.89940A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1546A>T MANE Select | ENSP00000295754.5:p.Thr516Ser | |
| ENST00000672050.1:n.430A>T | ||
| ENST00000672866.1:n.3142A>T | ||
| ENST00000673203.1:n.424A>T | ||
| ENST00000295754.9:c.1546A>T | ENSP00000295754.5:p.Thr516Ser | |
| ENST00000359013.4:c.1621A>T | ENSP00000351905.4:p.Thr541Ser | |
| NM_001024847.2:c.1621A>T , LRG_779t1:c.1621A>T | NP_001020018.1:p.Thr541Ser | |
| NM_003242.5:c.1546A>T | NP_003233.4:p.Thr516Ser | |
| XM_011534043.1:c.1573A>T | XP_011532345.1:p.Thr525Ser | |
| XM_011534044.1:c.1498A>T | XP_011532346.1:p.Thr500Ser | |
| XM_011534045.1:c.1441A>T | XP_011532347.1:p.Thr481Ser | |
| XM_011534043.2:c.1573A>T | XP_011532345.1:p.Thr525Ser | |
| XM_011534045.3:c.1441A>T | XP_011532347.1:p.Thr481Ser | |
| XM_017007106.1:c.1441A>T | XP_016862595.1:p.Thr481Ser | |
| NM_003242.6:c.1546A>T MANE Select | NP_003233.4:p.Thr516Ser |