Linked Data
ClinVar Variation Id:
337128
ClinVar RCV Id:
RCV000296108
dbSNP Id:
rs886056345
gnomAD v2:
2-74757374-G-A
gnomAD v4:
2-74530247-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74530247G>A , CM000664.2:g.74530247G>A | GRCh38 |
| NC_000002.11:g.74757374G>A , CM000664.1:g.74757374G>A | GRCh37 |
| NC_000002.10:g.74610882G>A | NCBI36 |
| NG_012163.1:g.5843G>A | |
| NG_033037.1:g.4601C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437202.2:c.241G>A | ENSP00000399166.2:p.Ala81Thr | |
| ENST00000462909.6:n.189-198G>A | ||
| ENST00000467961.6:n.189-214G>A | ||
| ENST00000484881.6:n.91+335G>A | ||
| ENST00000696725.1:n.318-194G>A | ||
| ENST00000696726.1:n.134+335G>A | ||
| ENST00000696727.1:c.241G>A | ENSP00000512836.1:p.Ala81Thr | |
| ENST00000696728.1:c.241G>A | ENSP00000512837.1:p.Ala81Thr | |
| ENST00000258080.8:c.241G>A MANE Select | ENSP00000258080.3:p.Ala81Thr | |
| ENST00000258080.7:c.241G>A | ENSP00000258080.3:p.Ala81Thr | |
| ENST00000352222.7:c.241G>A | ENSP00000312893.3:p.Ala81Thr | |
| ENST00000437202.1:c.202G>A | ENSP00000399166.1:p.Ala68Thr | |
| ENST00000462909.5:n.189-198G>A | ||
| ENST00000467961.5:n.139-214G>A | ||
| ENST00000484352.5:n.79G>A | ||
| ENST00000484881.5:n.91+335G>A | ||
| NM_013247.4:c.241G>A | NP_037379.1:p.Ala81Thr | |
| NM_145074.2:c.241G>A | NP_659540.1:p.Ala81Thr | |
| XM_005264266.2:c.241G>A | XP_005264323.1:p.Ala81Thr | |
| NM_001321727.1:c.241G>A | NP_001308656.1:p.Ala81Thr | |
| NM_001321728.1:c.241G>A | NP_001308657.1:p.Ala81Thr | |
| NR_135769.1:n.843G>A | ||
| NR_135770.1:n.509-198G>A | ||
| NR_135771.1:n.509-214G>A | ||
| NR_135772.1:n.509-194G>A | ||
| NM_013247.5:c.241G>A MANE Select | NP_037379.1:p.Ala81Thr |