Linked Data
ClinVar Variation Id:
376967
dbSNP Id:
rs144149122
ExAC:
10:27009232 G / A
gnomAD v2:
10-27009232-G-A
gnomAD v3:
10-26720303-G-A
gnomAD v4:
10-26720303-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26720303G>A , CM000672.2:g.26720303G>A | GRCh38 |
| NC_000010.10:g.27009232G>A , CM000672.1:g.27009232G>A | GRCh37 |
| NC_000010.9:g.27049238G>A | NCBI36 |
| NG_008972.1:g.27638G>A | |
| NG_008972.2:g.27638G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376215.10:c.553G>A MANE Select | ENSP00000365388.5:p.Asp185Asn | |
| ENST00000376215.9:c.553G>A | ENSP00000365388.5:p.Asp185Asn | |
| ENST00000473224.1:n.387G>A | ||
| NM_014317.3:c.553G>A | NP_055132.2:p.Asp185Asn | |
| XM_005252439.2:c.43G>A | XP_005252496.1:p.Asp15Asn | |
| XM_011519437.1:c.184G>A | XP_011517739.1:p.Asp62Asn | |
| XR_428636.2:n.841G>A | ||
| XR_930486.1:n.841G>A | ||
| NM_001321978.1:c.553G>A | NP_001308907.1:p.Asp185Asn | |
| NM_001321979.1:c.43G>A | NP_001308908.1:p.Asp15Asn | |
| NM_014317.4:c.553G>A | NP_055132.2:p.Asp185Asn | |
| XM_011519437.3:c.184G>A | XP_011517739.1:p.Asp62Asn | |
| XM_017016011.2:c.232G>A | XP_016871500.1:p.Asp78Asn | |
| XM_024447922.1:c.553G>A | XP_024303690.1:p.Asp185Asn | |
| XM_024447923.1:c.43G>A | XP_024303691.1:p.Asp15Asn | |
| XR_428636.4:n.841G>A | ||
| NM_014317.5:c.553G>A MANE Select | NP_055132.2:p.Asp185Asn | |
| NM_001321978.2:c.553G>A | NP_001308907.1:p.Asp185Asn | |
| NM_001321979.2:c.43G>A | NP_001308908.1:p.Asp15Asn |