Linked Data
dbSNP Id:
rs777292254
ExAC:
12:102147276 T / C
gnomAD v2:
12-102147276-T-C
gnomAD v4:
12-101753498-T-C
MyVariant Identifiers:
chr12:g.102147276T>C (hg19)
chr12:g.102147276_102147278delinsCTA (hg19)
chr12:g.101753498T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101753498T>C , CM000674.2:g.101753498T>C | GRCh38 |
| NC_000012.11:g.102147276T>C , CM000674.1:g.102147276T>C | GRCh37 |
| NC_000012.10:g.100671407T>C | NCBI36 |
| NG_021243.1:g.82370A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3476A>G MANE Select | ENSP00000299314.7:p.Lys1159Arg | |
| ENST00000299314.11:c.3476A>G | ENSP00000299314.7:p.Lys1159Arg | |
| ENST00000549738.5:c.374A>G | ENSP00000450161.1:n.374A>G | |
| NM_024312.4:c.3476A>G | NP_077288.2:p.Lys1159Arg | |
| XM_011538731.1:c.3395A>G | XP_011537033.1:p.Lys1132Arg | |
| XM_011538731.2:c.3395A>G | XP_011537033.1:p.Lys1132Arg | |
| XM_017019961.1:c.3260A>G | XP_016875450.1:p.Lys1087Arg | |
| XM_017019962.2:c.2249A>G | XP_016875451.1:p.Lys750Arg | |
| NM_024312.5:c.3476A>G MANE Select | NP_077288.2:p.Lys1159Arg |