Linked Data
ClinVar Variation Id:
914145
ClinVar RCV Id:
RCV001168164
dbSNP Id:
rs146169480
ExAC:
9:27173341 G / C
gnomAD v2:
9-27173341-G-C
gnomAD v3:
9-27173343-G-C
gnomAD v4:
9-27173343-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27173343G>C , CM000671.2:g.27173343G>C | GRCh38 |
| NC_000009.11:g.27173341G>C , CM000671.1:g.27173341G>C | GRCh37 |
| NC_000009.10:g.27163341G>C | NCBI36 |
| NG_011828.1:g.69195G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380036.10:c.882G>C MANE Select | ENSP00000369375.4:p.Lys294Asn | |
| ENST00000380036.8:c.882G>C | ENSP00000369375.4:p.Lys294Asn | |
| ENST00000406359.8:c.882G>C | ENSP00000383977.4:p.Lys294Asn | |
| ENST00000519080.1:c.441G>C | ENSP00000428337.1:p.Lys147Asn | |
| ENST00000519097.5:c.570G>C | ENSP00000430686.1:p.Lys190Asn | |
| ENST00000615002.4:c.882G>C | ENSP00000480251.1:p.Lys294Asn | |
| NM_000459.4:c.882G>C | NP_000450.2:p.Lys294Asn | |
| NM_001290077.1:c.882G>C | NP_001277006.1:p.Lys294Asn | |
| NM_001290078.1:c.570G>C | NP_001277007.1:p.Lys190Asn | |
| XM_005251561.1:c.882G>C | XP_005251618.1:p.Lys294Asn | |
| XM_005251563.1:c.882G>C | XP_005251620.1:p.Lys294Asn | |
| XM_005251561.2:c.882G>C | XP_005251618.1:p.Lys294Asn | |
| XM_005251563.2:c.882G>C | XP_005251620.1:p.Lys294Asn | |
| NM_000459.5:c.882G>C MANE Select | NP_000450.3:p.Lys294Asn | |
| NM_001375475.1:c.882G>C | NP_001362404.1:p.Lys294Asn | |
| NM_001375476.1:c.882G>C | NP_001362405.1:p.Lys294Asn |