Linked Data
ClinVar Variation Id:
16783
ClinVar RCV Id:
RCV000018272
dbSNP Id:
rs121913019
ExAC:
19:45858032 T / G
gnomAD v2:
19-45858032-T-G
gnomAD v3:
19-45354774-T-G
gnomAD v4:
19-45354774-T-G
PubMed:
PMID:9101292
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45354774T>G , CM000681.2:g.45354774T>G | GRCh38 |
| NC_000019.9:g.45858032T>G , CM000681.1:g.45858032T>G | GRCh37 |
| NC_000019.8:g.50549872T>G | NCBI36 |
| NG_007067.2:g.20814A>C , LRG_461:g.20814A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1621A>C | ENSP00000375808.4:p.Ser541Arg | |
| ENST00000682414.1:c.1621A>C | ENSP00000507019.1:p.Ser541Arg | |
| ENST00000682508.1:n.1650A>C | ||
| ENST00000684218.1:c.*879A>C | ENSP00000507804.1:n.*879A>C | |
| ENST00000684264.1:n.1177A>C | ||
| ENST00000684407.1:c.1498A>C | ENSP00000507775.1:p.Ser500Arg | |
| ENST00000684458.1:c.*107A>C | ENSP00000508260.1:n.*107A>C | |
| ENST00000684468.1:n.1333A>C | ||
| ENST00000391945.10:c.1621A>C MANE Select | ENSP00000375809.4:p.Ser541Arg | |
| ENST00000587376.6:c.680A>C | ||
| ENST00000646507.1:n.1718A>C | ||
| ENST00000391941.6:c.1549A>C | ENSP00000375805.2:p.Ser517Arg | |
| ENST00000391942.6:n.792A>C | ||
| ENST00000391944.7:c.1387A>C | ENSP00000375808.3:p.Ser463Arg | |
| ENST00000391945.8:c.1621A>C | ENSP00000375809.3:p.Ser541Arg | |
| ENST00000587376.5:c.680A>C | ||
| ENST00000588652.5:n.1709A>C | ||
| NM_000400.3:c.1621A>C , LRG_461t1:c.1621A>C | NP_000391.1:p.Ser541Arg | |
| XM_011526611.1:c.1543A>C | XP_011524913.1:p.Ser515Arg | |
| XR_935763.1:n.1604A>C | ||
| XM_011526611.2:c.1543A>C | XP_011524913.1:p.Ser515Arg | |
| XM_017026467.1:c.1498A>C | XP_016881956.1:p.Ser500Arg | |
| XR_001753633.2:n.1668A>C | ||
| XR_001753634.2:n.1604A>C | ||
| NM_000400.4:c.1621A>C MANE Select | NP_000391.1:p.Ser541Arg |