Linked Data
ClinVar Variation Id:
2895148
ClinVar RCV Id:
RCV003739552
dbSNP Id:
rs763572005
ExAC:
6:129826350 G / T
gnomAD v2:
6-129826350-G-T
gnomAD v4:
6-129505205-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129505205G>T , CM000668.2:g.129505205G>T | GRCh38 |
| NC_000006.11:g.129826350G>T , CM000668.1:g.129826350G>T | GRCh37 |
| NC_000006.10:g.129868043G>T | NCBI36 |
| NG_008678.1:g.627065G>T , LRG_409:g.627065G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494137.2:c.618G>T | ENSP00000510626.1:p.Lys206Asn | |
| ENST00000498257.6:c.618G>T | ENSP00000510533.1:p.Lys206Asn | |
| ENST00000617695.5:c.8541G>T | ENSP00000481744.2:p.Lys2847Asn | |
| ENST00000618192.5:c.8817G>T | ENSP00000480802.2:p.Lys2939Asn | |
| ENST00000688198.1:n.1531G>T | ||
| ENST00000688799.1:c.618G>T | ENSP00000508458.1:p.Lys206Asn | |
| ENST00000690858.1:n.1547G>T | ||
| ENST00000693461.1:n.890G>T | ||
| ENST00000421865.3:c.8553G>T MANE Select | ENSP00000400365.2:p.Lys2851Asn | |
| ENST00000421865.2:c.8553G>T | ENSP00000400365.2:p.Lys2851Asn | |
| ENST00000617695.4:c.8541G>T | ENSP00000481744.1:p.Lys2847Asn | |
| ENST00000618192.4:c.8550G>T | ENSP00000480802.1:p.Lys2850Asn | |
| NM_000426.3:c.8553G>T , LRG_409t1:c.8553G>T | NP_000417.2:p.Lys2851Asn | |
| NM_001079823.1:c.8541G>T | NP_001073291.1:p.Lys2847Asn | |
| XM_005266981.2:c.8817G>T | XP_005267038.1:p.Lys2939Asn | |
| XM_005266982.2:c.8805G>T | XP_005267039.1:p.Lys2935Asn | |
| XM_011535820.1:c.8811G>T | XP_011534122.1:p.Lys2937Asn | |
| XR_942984.1:n.1461-2414C>A | ||
| XR_942985.1:n.1325-2414C>A | ||
| XM_005266981.3:c.8817G>T | XP_005267038.1:p.Lys2939Asn | |
| XM_005266982.3:c.8805G>T | XP_005267039.1:p.Lys2935Asn | |
| XM_011535820.2:c.8811G>T | XP_011534122.1:p.Lys2937Asn | |
| XM_017010851.2:c.8823G>T | XP_016866340.1:p.Lys2941Asn | |
| XM_017010852.1:c.6948G>T | XP_016866341.1:p.Lys2316Asn | |
| XR_001743859.1:n.3901-2414C>A | ||
| XR_001743860.1:n.1180-2414C>A | ||
| XR_001743861.1:n.1347-2414C>A | ||
| XR_001743863.1:n.883-2414C>A | ||
| XR_002956395.1:n.9132-2414C>A | ||
| XR_002956396.1:n.3127-2414C>A | ||
| NM_000426.4:c.8553G>T MANE Select | NP_000417.3:p.Lys2851Asn | |
| NM_001079823.2:c.8541G>T | NP_001073291.2:p.Lys2847Asn |