Linked Data
dbSNP Id:
rs1767442972
gnomAD v3:
6-49447676-A-C
gnomAD v4:
6-49447676-A-C
MyVariant Identifiers:
chr6:g.49415389A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49447676A>C , CM000668.2:g.49447676A>C | GRCh38 |
| NC_000006.11:g.49415389A>C , CM000668.1:g.49415389A>C | GRCh37 |
| NC_000006.10:g.49523348A>C | NCBI36 |
| NG_007100.1:g.20464T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.1554T>G MANE Select | ENSP00000274813.3:p.Leu518= | |
| ENST00000274813.3:c.1554T>G | ENSP00000274813.3:p.Leu518= | |
| NM_000255.3:c.1554T>G | NP_000246.2:p.Leu518= | |
| XM_005249143.2:c.1554T>G | XP_005249200.1:p.Leu518= | |
| XM_005249143.3:c.1554T>G | XP_005249200.1:p.Leu518= | |
| NM_000255.4:c.1554T>G MANE Select | NP_000246.2:p.Leu518= |