Linked Data
ClinVar Variation Id:
2684330
ClinVar RCV Id:
RCV003482826
dbSNP Id:
rs1259157720
gnomAD v2:
21-27269944-C-T
gnomAD v3:
21-25897632-C-T
gnomAD v4:
21-25897632-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.25897632C>T , CM000683.2:g.25897632C>T | GRCh38 |
| NC_000021.8:g.27269944C>T , CM000683.1:g.27269944C>T | GRCh37 |
| NC_000021.7:g.26191815C>T | NCBI36 |
| NG_007376.1:g.278189G>A | |
| NG_007376.2:g.278497G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707132.1:n.1972G>A | ||
| ENST00000707133.1:n.402G>A | ||
| ENST00000707134.1:n.671G>A | ||
| ENST00000346798.8:c.2005G>A MANE Select | ENSP00000284981.4:p.Val669Met | |
| ENST00000346798.7:c.2005G>A | ENSP00000284981.4:p.Val669Met | |
| ENST00000348990.9:c.1780G>A | ENSP00000345463.5:p.Val594Met | |
| ENST00000354192.7:c.1612G>A | ENSP00000346129.3:p.Val538Met | |
| ENST00000357903.7:c.1948G>A | ENSP00000350578.3:p.Val650Met | |
| ENST00000358918.7:c.1951G>A | ENSP00000351796.3:p.Val651Met | |
| ENST00000359726.7:c.1675G>A | ENSP00000352760.4:p.Val559Met | |
| ENST00000439274.6:c.1837G>A | ENSP00000398879.2:p.Val613Met | |
| ENST00000440126.7:c.1933G>A | ENSP00000387483.2:p.Val645Met | |
| ENST00000464867.1:n.352G>A | ||
| NM_000484.3:c.2005G>A | NP_000475.1:p.Val669Met | |
| NM_001136016.3:c.1933G>A | NP_001129488.1:p.Val645Met | |
| NM_001136129.2:c.1612G>A | NP_001129601.1:p.Val538Met | |
| NM_001136130.2:c.1837G>A | NP_001129602.1:p.Val613Met | |
| NM_001136131.2:c.1675G>A | NP_001129603.1:p.Val559Met | |
| NM_001204301.1:c.1951G>A | NP_001191230.1:p.Val651Met | |
| NM_001204302.1:c.1894G>A | NP_001191231.1:p.Val632Met | |
| NM_001204303.1:c.1726G>A | NP_001191232.1:p.Val576Met | |
| NM_201413.2:c.1948G>A | NP_958816.1:p.Val650Met | |
| NM_201414.2:c.1780G>A | NP_958817.1:p.Val594Met | |
| NM_000484.4:c.2005G>A MANE Select | NP_000475.1:p.Val669Met | |
| NM_001136129.3:c.1612G>A | NP_001129601.1:p.Val538Met | |
| NM_001136130.3:c.1837G>A | NP_001129602.1:p.Val613Met | |
| NM_001204301.2:c.1951G>A | NP_001191230.1:p.Val651Met | |
| NM_001204302.2:c.1894G>A | NP_001191231.1:p.Val632Met | |
| NM_001204303.2:c.1726G>A | NP_001191232.1:p.Val576Met | |
| NM_201413.3:c.1948G>A | NP_958816.1:p.Val650Met | |
| NM_201414.3:c.1780G>A | NP_958817.1:p.Val594Met | |
| NM_001136131.3:c.1675G>A | NP_001129603.1:p.Val559Met | |
| NM_001385253.1:c.1837G>A | NP_001372182.1:p.Val613Met |