Linked Data
ClinVar Variation Id:
179451
dbSNP Id:
rs544952984
ExAC:
17:72916214 C / G
gnomAD v2:
17-72916214-C-G
gnomAD v3:
17-74920119-C-G
gnomAD v4:
17-74920119-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920119C>G , CM000679.2:g.74920119C>G | GRCh38 |
| NC_000017.10:g.72916214C>G , CM000679.1:g.72916214C>G | GRCh37 |
| NC_000017.9:g.70427809C>G | NCBI36 |
| NG_007882.1:g.8138G>C | |
| NG_033062.1:g.845C>G | |
| NG_007882.2:g.8145G>C | |
| NG_033062.2:g.845C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.717G>C MANE Select | ENSP00000480279.1:p.Lys239Asn | |
| ENST00000579243.1:c.*316G>C | ENSP00000462568.1:n.*316G>C | |
| ENST00000614341.4:c.717G>C | ENSP00000480279.1:p.Lys239Asn | |
| NM_001282489.2:c.408G>C | NP_001269418.1:p.Lys136Asn | |
| NM_173477.4:c.717G>C | NP_775748.2:p.Lys239Asn | |
| XM_011524296.1:c.408G>C | XP_011522598.1:p.Lys136Asn | |
| XM_011524296.2:c.408G>C | XP_011522598.1:p.Lys136Asn | |
| NM_173477.5:c.717G>C MANE Select | NP_775748.2:p.Lys239Asn | |
| NM_001282489.3:c.408G>C | NP_001269418.1:p.Lys136Asn |