Linked Data
dbSNP Id:
rs746588482
ExAC:
2:203421108 G / A
gnomAD v2:
2-203421108-G-A
gnomAD v3:
2-202556385-G-A
gnomAD v4:
2-202556385-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202556385G>A , CM000664.2:g.202556385G>A | GRCh38 |
| NC_000002.11:g.203421108G>A , CM000664.1:g.203421108G>A | GRCh37 |
| NC_000002.10:g.203129353G>A | NCBI36 |
| NG_009363.1:g.185059G>A , LRG_712:g.185059G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.2720G>A MANE Select | ENSP00000363708.4:p.Ser907Asn | |
| ENST00000638587.1:c.2651G>A | ENSP00000491062.1:n.2651G>A | |
| ENST00000374574.2:c.1587-3311G>A | ENSP00000363702.2:n.1587-3311G>A | |
| ENST00000374580.8:c.2720G>A | ENSP00000363708.4:p.Ser907Asn | |
| NM_001204.6:c.2720G>A , LRG_712t1:c.2720G>A | NP_001195.2:p.Ser907Asn | |
| XM_011511687.1:c.2720G>A | XP_011509989.1:p.Ser907Asn | |
| XM_011511688.1:c.1587-3311G>A | XP_011509990.1:n.1587-3311G>A | |
| NM_001204.7:c.2720G>A MANE Select | NP_001195.2:p.Ser907Asn |