Linked Data
ClinVar Variation Id:
444482
dbSNP Id:
rs373285006
ExAC:
19:54310809 C / T
gnomAD v2:
19-54310809-C-T
gnomAD v3:
19-53807555-C-T
gnomAD v4:
19-53807555-C-T
MyVariant Identifiers:
chr19:g.54310809C>T (hg19)
chr19:g.54310809_54310810delinsTG (hg19)
chr19:g.53807555C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53807555C>T , CM000681.2:g.53807555C>T | GRCh38 |
| NC_000019.9:g.54310809C>T , CM000681.1:g.54310809C>T | GRCh37 |
| NC_000019.8:g.59002621C>T | NCBI36 |
| NG_008651.1:g.21840G>A | |
| NG_008651.2:g.21840G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391773.7:c.2186G>A | ENSP00000375653.1:p.Arg729Gln | |
| ENST00000324134.11:c.2183G>A MANE Select | ENSP00000319377.6:p.Arg728Gln | |
| ENST00000391773.6:c.2186G>A | ENSP00000375653.1:p.Arg729Gln | |
| ENST00000324134.10:c.2183G>A | ENSP00000319377.6:p.Arg728Gln | |
| ENST00000345770.9:c.2186G>A | ENSP00000341428.5:p.Arg729Gln | |
| ENST00000391772.1:c.2186G>A | ENSP00000375652.1:p.Arg729Gln | |
| ENST00000391773.5:c.2186G>A | ENSP00000375653.1:p.Arg729Gln | |
| ENST00000391775.7:c.2183G>A | ENSP00000375655.3:p.Arg728Gln | |
| ENST00000492915.1:n.1151G>A | ||
| NM_001277126.1:c.2186G>A | NP_001264055.1:p.Arg729Gln | |
| NM_001277129.1:c.2183G>A | NP_001264058.1:p.Arg728Gln | |
| NM_144687.3:c.2183G>A | NP_653288.1:p.Arg728Gln | |
| XM_011527478.1:c.2018G>A | XP_011525780.1:p.Arg673Gln | |
| XM_011527479.1:c.2186G>A | XP_011525781.1:p.Arg729Gln | |
| XM_011527480.1:c.2186G>A | XP_011525782.1:p.Arg729Gln | |
| XM_011527481.1:c.2186G>A | XP_011525783.1:p.Arg729Gln | |
| XM_011527482.1:c.2186G>A | XP_011525784.1:p.Arg729Gln | |
| XM_011527483.1:c.2072+2032G>A | XP_011525785.1:n.2072+2032G>A | |
| XM_017027460.1:c.2186G>A | XP_016882949.1:p.Arg729Gln | |
| XM_017027461.1:c.2186G>A | XP_016882950.1:p.Arg729Gln | |
| XM_017027462.1:c.2072+2032G>A | XP_016882951.1:n.2072+2032G>A | |
| XM_017027463.1:c.1769G>A | XP_016882952.1:p.Arg590Gln | |
| XM_017027464.1:c.1769G>A | XP_016882953.1:p.Arg590Gln | |
| XM_017027465.1:c.1769G>A | XP_016882954.1:p.Arg590Gln | |
| XM_017027466.1:c.1769G>A | XP_016882955.1:p.Arg590Gln | |
| XM_017027467.1:c.1769G>A | XP_016882956.1:p.Arg590Gln | |
| NM_001277126.2:c.2186G>A | NP_001264055.1:p.Arg729Gln | |
| NM_144687.4:c.2183G>A MANE Select | NP_653288.1:p.Arg728Gln |