Linked Data
ClinVar Variation Id:
1566917
ClinVar RCV Id:
RCV002207652
dbSNP Id:
rs2127417933
gnomAD v4:
6-49451607-T-G
MyVariant Identifiers:
chr6:g.49419320T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49451607T>G , CM000668.2:g.49451607T>G | GRCh38 |
| NC_000006.11:g.49419320T>G , CM000668.1:g.49419320T>G | GRCh37 |
| NC_000006.10:g.49527279T>G | NCBI36 |
| NG_007100.1:g.16533A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.1191A>C MANE Select | ENSP00000274813.3:p.Pro397= | |
| ENST00000274813.3:c.1191A>C | ENSP00000274813.3:p.Pro397= | |
| NM_000255.3:c.1191A>C | NP_000246.2:p.Pro397= | |
| XM_005249143.2:c.1191A>C | XP_005249200.1:p.Pro397= | |
| XM_005249143.3:c.1191A>C | XP_005249200.1:p.Pro397= | |
| NM_000255.4:c.1191A>C MANE Select | NP_000246.2:p.Pro397= |