Linked Data
ClinVar Variation Id:
2495010
ClinVar RCV Id:
RCV003213247
dbSNP Id:
rs188993222
ExAC:
17:61564025 G / C
gnomAD v2:
17-61564025-G-C
gnomAD v3:
17-63486664-G-C
gnomAD v4:
17-63486664-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63486664G>C , CM000679.2:g.63486664G>C | GRCh38 |
| NC_000017.10:g.61564025G>C , CM000679.1:g.61564025G>C | GRCh37 |
| NC_000017.9:g.58917757G>C | NCBI36 |
| NG_011648.1:g.14592G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2166G>C MANE Select | ENSP00000290866.4:p.Lys722Asn | |
| ENST00000290863.10:c.444G>C | ENSP00000290863.6:p.Lys148Asn | |
| ENST00000290866.9:c.2166G>C | ENSP00000290866.4:p.Lys722Asn | |
| ENST00000413513.7:c.444G>C | ENSP00000392247.3:p.Lys148Asn | |
| ENST00000428043.5:c.2166G>C | ENSP00000397593.2:p.Lys722Asn | |
| ENST00000577647.2:c.444G>C | ENSP00000464149.1:p.Lys148Asn | |
| ENST00000578839.5:c.*236G>C | ENSP00000462110.2:n.*236G>C | |
| ENST00000579204.1:c.347G>C | ENSP00000464629.1:n.347G>C | |
| ENST00000579314.5:c.444G>C | ENSP00000462599.1:p.Lys148Asn | |
| ENST00000579726.5:c.728G>C | ||
| ENST00000582005.5:c.*86G>C | ENSP00000462002.1:n.*86G>C | |
| NM_000789.3:c.2166G>C | NP_000780.1:p.Lys722Asn | |
| NM_001178057.1:c.444G>C | NP_001171528.1:p.Lys148Asn | |
| NM_152830.2:c.444G>C | NP_690043.1:p.Lys148Asn | |
| XM_005257110.1:c.1617G>C | XP_005257167.1:p.Lys539Asn | |
| XM_006721737.2:c.504G>C | XP_006721800.2:p.Lys168Asn | |
| XM_006721737.3:c.504G>C | XP_006721800.2:p.Lys168Asn | |
| NM_000789.4:c.2166G>C MANE Select | NP_000780.1:p.Lys722Asn | |
| NM_001178057.2:c.444G>C | NP_001171528.1:p.Lys148Asn | |
| NM_152830.3:c.444G>C | NP_690043.1:p.Lys148Asn | |
| NM_001382700.1:c.1599G>C | NP_001369629.1:p.Lys533Asn | |
| NM_001382701.1:c.1314G>C | NP_001369630.1:p.Lys438Asn | |
| NM_001382702.1:c.96G>C | NP_001369631.1:p.Lys32Asn | |
| NR_168483.1:n.466G>C |