Linked Data
dbSNP Id:
rs377020025
ExAC:
2:203242267 G / A
gnomAD v2:
2-203242267-G-A
gnomAD v3:
2-202377544-G-A
gnomAD v4:
2-202377544-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202377544G>A , CM000664.2:g.202377544G>A | GRCh38 |
| NC_000002.11:g.203242267G>A , CM000664.1:g.203242267G>A | GRCh37 |
| NC_000002.10:g.202950512G>A | NCBI36 |
| NG_009363.1:g.6218G>A , LRG_712:g.6218G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.70G>A MANE Select | ENSP00000363708.4:p.Ala24Thr | |
| ENST00000374574.2:c.70G>A | ENSP00000363702.2:p.Ala24Thr | |
| ENST00000374580.8:c.70G>A | ENSP00000363708.4:p.Ala24Thr | |
| NM_001204.6:c.70G>A , LRG_712t1:c.70G>A | NP_001195.2:p.Ala24Thr | |
| XM_011511687.1:c.70G>A | XP_011509989.1:p.Ala24Thr | |
| XM_011511688.1:c.70G>A | XP_011509990.1:p.Ala24Thr | |
| NM_001204.7:c.70G>A MANE Select | NP_001195.2:p.Ala24Thr |