Linked Data
ClinVar Variation Id:
230926
ClinVar RCV Id:
RCV001589145
RCV002463360
RCV003137821
RCV003462451
RCV004532784
RCV000219014
RCV000556223
RCV002265692
dbSNP Id:
rs146646971
ExAC:
10:43610046 G / C
gnomAD v3:
10-43114598-G-C
gnomAD v4:
10-43114598-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43114598G>C , CM000672.2:g.43114598G>C | GRCh38 |
| NC_000010.10:g.43610046G>C , CM000672.1:g.43610046G>C | GRCh37 |
| NC_000010.9:g.42930052G>C | NCBI36 |
| NG_007489.1:g.42530G>C , LRG_518:g.42530G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1602G>C | ENSP00000480088.2:p.Lys534Asn | |
| ENST00000683007.1:n.1572G>C | ||
| ENST00000683872.1:n.1563G>C | ||
| ENST00000340058.6:c.1998G>C | ENSP00000344798.4:p.Lys666Asn | |
| ENST00000355710.8:c.1998G>C MANE Select | ENSP00000347942.3:p.Lys666Asn | |
| ENST00000671844.1:c.*592G>C | ENSP00000500541.1:n.*592G>C | |
| ENST00000672389.1:c.*592G>C | ENSP00000500252.1:n.*592G>C | |
| ENST00000340058.5:c.1998G>C | ENSP00000344798.4:p.Lys666Asn | |
| ENST00000355710.7:c.1998G>C | ENSP00000347942.3:p.Lys666Asn | |
| ENST00000615310.4:c.1289+3366G>C | ENSP00000480088.1:n.1289+3366G>C | |
| NM_020630.4:c.1998G>C , LRG_518t2:c.1998G>C | NP_065681.1:p.Lys666Asn | |
| NM_020975.4:c.1998G>C , LRG_518t1:c.1998G>C | NP_066124.1:p.Lys666Asn | |
| XM_011540027.1:c.1998G>C | XP_011538329.1:p.Lys666Asn | |
| NM_001355216.1:c.1236G>C | NP_001342145.1:p.Lys412Asn | |
| NM_020630.5:c.1998G>C | NP_065681.1:p.Lys666Asn | |
| NM_020975.5:c.1998G>C | NP_066124.1:p.Lys666Asn | |
| NM_020975.6:c.1998G>C MANE Select | NP_066124.1:p.Lys666Asn | |
| NM_020630.6:c.1998G>C | NP_065681.1:p.Lys666Asn |