Linked Data
dbSNP Id:
rs1410563048
gnomAD v2:
2-219757980-G-A
gnomAD v3:
2-218893258-G-A
gnomAD v4:
2-218893258-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893258G>A , CM000664.2:g.218893258G>A | GRCh38 |
| NC_000002.11:g.219757980G>A , CM000664.1:g.219757980G>A | GRCh37 |
| NC_000002.10:g.219466224G>A | NCBI36 |
| NG_012179.1:g.17726G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1241G>A MANE Select | ENSP00000258411.3:p.Ser414Asn | |
| ENST00000258411.7:c.1241G>A | ENSP00000258411.3:p.Ser414Asn | |
| ENST00000489887.1:n.38G>A | ||
| NM_025216.2:c.1241G>A | NP_079492.2:p.Ser414Asn | |
| XM_011511928.1:c.1190G>A | XP_011510230.1:p.Ser397Asn | |
| XM_011511929.1:c.1145G>A | XP_011510231.1:p.Ser382Asn | |
| XM_011511930.1:c.861G>A | XP_011510232.1:p.Gln287= | |
| XM_011511929.2:c.1145G>A | XP_011510231.1:p.Ser382Asn | |
| NM_025216.3:c.1241G>A MANE Select | NP_079492.2:p.Ser414Asn |