Linked Data
ClinVar Variation Id:
161218
ClinVar RCV Id:
RCV000157142
RCV000148461
RCV000417378
RCV000514567
RCV000659433
RCV000770605
RCV000664303
RCV003224168
dbSNP Id:
rs111840783
ExAC:
2:189875018 A / G
gnomAD v2:
2-189875018-A-G
gnomAD v3:
2-189010292-A-G
gnomAD v4:
2-189010292-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189010292A>G , CM000664.2:g.189010292A>G | GRCh38 |
| NC_000002.11:g.189875018A>G , CM000664.1:g.189875018A>G | GRCh37 |
| NC_000002.10:g.189583263A>G | NCBI36 |
| NG_007404.1:g.40920A>G , LRG_3:g.40920A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3839A>G | ENSP00000415346.2:p.Lys1280Arg | |
| ENST00000304636.9:c.3938A>G MANE Select | ENSP00000304408.4:p.Lys1313Arg | |
| ENST00000304636.7:c.3938A>G | ENSP00000304408.3:p.Lys1313Arg | |
| ENST00000317840.9:c.3029A>G | ENSP00000315243.6:p.Lys1010Arg | |
| ENST00000487010.1:n.1035A>G | ||
| NM_000090.3:c.3938A>G , LRG_3t1:c.3938A>G | NP_000081.1:p.Lys1313Arg | |
| NM_000090.4:c.3938A>G MANE Select | NP_000081.2:p.Lys1313Arg |