Linked Data
ClinVar Variation Id:
852360
ClinVar RCV Id:
RCV001056949
dbSNP Id:
rs753272581
ExAC:
17:72916207 G / C
gnomAD v2:
17-72916207-G-C
gnomAD v4:
17-74920112-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920112G>C , CM000679.2:g.74920112G>C | GRCh38 |
| NC_000017.10:g.72916207G>C , CM000679.1:g.72916207G>C | GRCh37 |
| NC_000017.9:g.70427802G>C | NCBI36 |
| NG_007882.1:g.8145C>G | |
| NG_033062.1:g.838G>C | |
| NG_007882.2:g.8152C>G | |
| NG_033062.2:g.838G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.724C>G MANE Select | ENSP00000480279.1:p.Arg242Gly | |
| ENST00000579243.1:c.*323C>G | ENSP00000462568.1:n.*323C>G | |
| ENST00000614341.4:c.724C>G | ENSP00000480279.1:p.Arg242Gly | |
| NM_001282489.2:c.415C>G | NP_001269418.1:p.Arg139Gly | |
| NM_173477.4:c.724C>G | NP_775748.2:p.Arg242Gly | |
| XM_011524296.1:c.415C>G | XP_011522598.1:p.Arg139Gly | |
| XM_011524296.2:c.415C>G | XP_011522598.1:p.Arg139Gly | |
| NM_173477.5:c.724C>G MANE Select | NP_775748.2:p.Arg242Gly | |
| NM_001282489.3:c.415C>G | NP_001269418.1:p.Arg139Gly |