Linked Data
dbSNP Id:
rs1376545398
gnomAD v2:
6-42937536-C-T
MyVariant Identifiers:
chr6:g.42937536C>T (hg19)
chr6:g.42937536_42937619delinsTCACCTGTGAAAGGTAATAAAAAGCTTTCGTTTCTAAAAATCGTTTCTACCCCCTGCGCTGGTCTACACCCATCCTTGGGGCCT (hg19)
chr6:g.42969798C>T (hg38)
chr6:g.42969798_42969881delinsTCACCTGTGAAAGGTAATAAAAAGCTTTCGTTTCTAAAAATCGTTTCTACCCCCTGCGCTGGTCTACACCCATCCTTGGGGCCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42969798C>T , CM000668.2:g.42969798C>T | GRCh38 |
| NC_000006.11:g.42937536C>T , CM000668.1:g.42937536C>T | GRCh37 |
| NC_000006.10:g.43045514C>T | NCBI36 |
| NG_008370.1:g.14446G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.1237G>A MANE Select | ENSP00000303511.8:p.Gly413Ser | |
| ENST00000244546.4:c.1237G>A | ENSP00000244546.4:p.Gly413Ser | |
| ENST00000304611.12:c.1237G>A | ENSP00000303511.8:p.Gly413Ser | |
| NM_000287.3:c.1237G>A | NP_000278.3:p.Gly413Ser | |
| NM_001316313.1:c.973G>A | NP_001303242.1:p.Gly325Ser | |
| NR_133009.1:n.1330G>A | ||
| XM_011514661.1:c.1153G>A | XP_011512963.1:p.Gly385Ser | |
| XR_926246.1:n.1330G>A | ||
| XM_011514661.2:c.1153G>A | XP_011512963.1:p.Gly385Ser | |
| XR_001743466.2:n.2311G>A | ||
| NM_000287.4:c.1237G>A MANE Select | NP_000278.3:p.Gly413Ser | |
| NM_001316313.2:c.973G>A | NP_001303242.1:p.Gly325Ser | |
| NR_133009.2:n.1268G>A |