Linked Data
ClinVar Variation Id:
1936601
ClinVar RCV Id:
RCV002642603
dbSNP Id:
rs200260102
ExAC:
21:27269961 G / A
gnomAD v2:
21-27269961-G-A
gnomAD v3:
21-25897649-G-A
gnomAD v4:
21-25897649-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.25897649G>A , CM000683.2:g.25897649G>A | GRCh38 |
| NC_000021.8:g.27269961G>A , CM000683.1:g.27269961G>A | GRCh37 |
| NC_000021.7:g.26191832G>A | NCBI36 |
| NG_007376.1:g.278172C>T | |
| NG_007376.2:g.278480C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707132.1:n.1955C>T | ||
| ENST00000707133.1:n.385C>T | ||
| ENST00000707134.1:n.654C>T | ||
| ENST00000346798.8:c.1988C>T MANE Select | ENSP00000284981.4:p.Thr663Met | |
| ENST00000346798.7:c.1988C>T | ENSP00000284981.4:p.Thr663Met | |
| ENST00000348990.9:c.1763C>T | ENSP00000345463.5:p.Thr588Met | |
| ENST00000354192.7:c.1595C>T | ENSP00000346129.3:p.Thr532Met | |
| ENST00000357903.7:c.1931C>T | ENSP00000350578.3:p.Thr644Met | |
| ENST00000358918.7:c.1934C>T | ENSP00000351796.3:p.Thr645Met | |
| ENST00000359726.7:c.1658C>T | ENSP00000352760.4:p.Thr553Met | |
| ENST00000439274.6:c.1820C>T | ENSP00000398879.2:p.Thr607Met | |
| ENST00000440126.7:c.1916C>T | ENSP00000387483.2:p.Thr639Met | |
| ENST00000464867.1:n.335C>T | ||
| NM_000484.3:c.1988C>T | NP_000475.1:p.Thr663Met | |
| NM_001136016.3:c.1916C>T | NP_001129488.1:p.Thr639Met | |
| NM_001136129.2:c.1595C>T | NP_001129601.1:p.Thr532Met | |
| NM_001136130.2:c.1820C>T | NP_001129602.1:p.Thr607Met | |
| NM_001136131.2:c.1658C>T | NP_001129603.1:p.Thr553Met | |
| NM_001204301.1:c.1934C>T | NP_001191230.1:p.Thr645Met | |
| NM_001204302.1:c.1877C>T | NP_001191231.1:p.Thr626Met | |
| NM_001204303.1:c.1709C>T | NP_001191232.1:p.Thr570Met | |
| NM_201413.2:c.1931C>T | NP_958816.1:p.Thr644Met | |
| NM_201414.2:c.1763C>T | NP_958817.1:p.Thr588Met | |
| NM_000484.4:c.1988C>T MANE Select | NP_000475.1:p.Thr663Met | |
| NM_001136129.3:c.1595C>T | NP_001129601.1:p.Thr532Met | |
| NM_001136130.3:c.1820C>T | NP_001129602.1:p.Thr607Met | |
| NM_001204301.2:c.1934C>T | NP_001191230.1:p.Thr645Met | |
| NM_001204302.2:c.1877C>T | NP_001191231.1:p.Thr626Met | |
| NM_001204303.2:c.1709C>T | NP_001191232.1:p.Thr570Met | |
| NM_201413.3:c.1931C>T | NP_958816.1:p.Thr644Met | |
| NM_201414.3:c.1763C>T | NP_958817.1:p.Thr588Met | |
| NM_001136131.3:c.1658C>T | NP_001129603.1:p.Thr553Met | |
| NM_001385253.1:c.1820C>T | NP_001372182.1:p.Thr607Met |