Linked Data
ClinVar Variation Id:
2893088
ClinVar RCV Id:
RCV003648824
dbSNP Id:
rs199531653
ExAC:
15:67073380 G / A
gnomAD v2:
15-67073380-G-A
gnomAD v4:
15-66781042-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66781042G>A , CM000677.2:g.66781042G>A | GRCh38 |
| NC_000015.9:g.67073380G>A , CM000677.1:g.67073380G>A | GRCh37 |
| NC_000015.8:g.64860434G>A | NCBI36 |
| NG_012244.1:g.83707G>A | |
| NG_012244.2:g.83707G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.998G>A MANE Select | ENSP00000288840.5:p.Ser333Asn | |
| ENST00000288840.9:c.998G>A | ENSP00000288840.5:p.Ser333Asn | |
| ENST00000557916.5:c.1130G>A | ENSP00000452955.1:n.1130G>A | |
| ENST00000559931.5:c.302G>A | ENSP00000453446.1:n.302G>A | |
| NM_005585.4:c.998G>A | NP_005576.3:p.Ser333Asn | |
| NR_027654.1:n.2053G>A | ||
| XM_011521561.1:c.215G>A | XP_011519863.1:p.Ser72Asn | |
| XR_931825.1:n.2397G>A | ||
| XM_011521561.2:c.215G>A | XP_011519863.1:p.Ser72Asn | |
| NM_005585.5:c.998G>A MANE Select | NP_005576.3:p.Ser333Asn | |
| NR_027654.2:n.2153G>A |