Linked Data
ClinVar Variation Id:
766339
ClinVar RCV Id:
RCV000944848
dbSNP Id:
rs754257532
ExAC:
6:49425413 A / G
gnomAD v2:
6-49425413-A-G
gnomAD v3:
6-49457700-A-G
gnomAD v4:
6-49457700-A-G
COSMIC:
COSM1080062
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49457700A>G , CM000668.2:g.49457700A>G | GRCh38 |
| NC_000006.11:g.49425413A>G , CM000668.1:g.49425413A>G | GRCh37 |
| NC_000006.10:g.49533372A>G | NCBI36 |
| NG_007100.1:g.10440T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.744T>C MANE Select | ENSP00000274813.3:p.Tyr248= | |
| ENST00000274813.3:c.744T>C | ENSP00000274813.3:p.Tyr248= | |
| NM_000255.3:c.744T>C | NP_000246.2:p.Tyr248= | |
| XM_005249143.2:c.744T>C | XP_005249200.1:p.Tyr248= | |
| XM_005249143.3:c.744T>C | XP_005249200.1:p.Tyr248= | |
| NM_000255.4:c.744T>C MANE Select | NP_000246.2:p.Tyr248= |