Linked Data
dbSNP Id:
rs1970675528
gnomAD v3:
19-12896235-T-C
gnomAD v4:
19-12896235-T-C
MyVariant Identifiers:
chr19:g.13007049T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12896235T>C , CM000681.2:g.12896235T>C | GRCh38 |
| NC_000019.9:g.13007049T>C , CM000681.1:g.13007049T>C | GRCh37 |
| NC_000019.8:g.12868049T>C | NCBI36 |
| NG_009292.1:g.10076T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.666T>C MANE Select | ENSP00000222214.4:p.Phe222= | |
| ENST00000222214.9:c.666T>C | ENSP00000222214.4:p.Phe222= | |
| ENST00000421816.6:n.644T>C | ||
| ENST00000585420.5:n.1001-5T>C | ||
| ENST00000590530.5:c.*106T>C | ENSP00000468452.1:n.*106T>C | |
| ENST00000591043.1:n.702T>C | ||
| ENST00000591470.5:c.666T>C | ENSP00000466845.1:p.Phe222= | |
| NM_000159.3:c.666T>C | NP_000150.1:p.Phe222= | |
| NM_013976.3:c.666T>C | NP_039663.1:p.Phe222= | |
| NR_102316.1:n.829T>C | ||
| NR_102317.1:n.1052-5T>C | ||
| XM_006722721.2:c.666T>C | XP_006722784.1:p.Phe222= | |
| XM_011527899.1:c.666T>C | XP_011526201.1:p.Phe222= | |
| XM_011527900.1:c.666T>C | XP_011526202.1:p.Phe222= | |
| XM_011527899.2:c.666T>C | XP_011526201.1:p.Phe222= | |
| XM_011527900.2:c.666T>C | XP_011526202.1:p.Phe222= | |
| XM_017026580.1:c.666T>C | XP_016882069.1:p.Phe222= | |
| NM_000159.4:c.666T>C MANE Select | NP_000150.1:p.Phe222= | |
| NM_013976.4:c.666T>C | NP_039663.1:p.Phe222= | |
| NM_013976.5:c.666T>C | NP_039663.1:p.Phe222= |