Linked Data
ClinVar Variation Id:
221949
dbSNP Id:
rs199940702
ExAC:
4:79308580 G / A
gnomAD v2:
4-79308580-G-A
gnomAD v3:
4-78387426-G-A
gnomAD v4:
4-78387426-G-A
PubMed:
PMID:26893459
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78387426G>A , CM000666.2:g.78387426G>A | GRCh38 |
| NC_000004.11:g.79308580G>A , CM000666.1:g.79308580G>A | GRCh37 |
| NC_000004.10:g.79527604G>A | NCBI36 |
| NG_015812.1:g.334857G>A | |
| NG_015812.2:g.334857G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325942.11:c.3700G>A | ENSP00000326330.6:p.Ala1234Thr | |
| ENST00000682513.1:c.3700G>A | ENSP00000508201.1:p.Ala1234Thr | |
| ENST00000684159.1:c.3700G>A | ENSP00000506875.1:p.Ala1234Thr | |
| ENST00000512123.4:c.3700G>A MANE Select | ENSP00000422834.2:p.Ala1234Thr | |
| ENST00000264899.10:c.845-56677G>A | ENSP00000264899.7:n.845-56677G>A | |
| ENST00000325942.10:c.3700G>A | ENSP00000326330.6:p.Ala1234Thr | |
| ENST00000512123.3:c.3700G>A | ENSP00000422834.2:p.Ala1234Thr | |
| NM_001166133.1:c.3700G>A | NP_001159605.1:p.Ala1234Thr | |
| NM_025074.6:c.3700G>A | NP_079350.5:p.Ala1234Thr | |
| XM_006714314.1:c.3700G>A | XP_006714377.1:p.Ala1234Thr | |
| XM_006714316.1:c.3700G>A | XP_006714379.1:p.Ala1234Thr | |
| XM_011532270.1:c.1399G>A | XP_011530572.1:p.Ala467Thr | |
| XM_006714316.3:c.3700G>A | XP_006714379.1:p.Ala1234Thr | |
| NM_025074.7:c.3700G>A MANE Select | NP_079350.5:p.Ala1234Thr | |
| NM_001166133.2:c.3700G>A | NP_001159605.1:p.Ala1234Thr |