Linked Data
ClinVar Variation Id:
1311778
ClinVar RCV Id:
RCV001752761
dbSNP Id:
rs1242898915
gnomAD v2:
20-62038506-G-A
gnomAD v4:
20-63407153-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63407153G>A , CM000682.2:g.63407153G>A | GRCh38 |
| NC_000020.10:g.62038506G>A , CM000682.1:g.62038506G>A | GRCh37 |
| NC_000020.9:g.61508950G>A | NCBI36 |
| NG_009004.1:g.70488C>T | |
| NG_009004.2:g.70488C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2164C>T | ENSP00000516702.1:p.Pro722Ser | |
| ENST00000359125.7:c.2110C>T MANE Select | ENSP00000352035.2:p.Pro704Ser | |
| ENST00000637193.1:c.1507C>T | ENSP00000490734.1:p.Pro503Ser | |
| ENST00000344462.8:c.2017C>T | ENSP00000339611.4:p.Pro673Ser | |
| ENST00000357249.6:c.1678C>T | ENSP00000349789.3:p.Pro560Ser | |
| ENST00000359125.6:c.2110C>T | ENSP00000352035.2:p.Pro704Ser | |
| ENST00000360480.7:c.2026C>T | ENSP00000353668.3:p.Pro676Ser | |
| ENST00000370224.5:c.2134C>T | ENSP00000359244.2:p.Pro712Ser | |
| ENST00000625514.2:c.2098C>T | ENSP00000486040.1:p.Pro700Ser | |
| ENST00000626839.2:c.2056C>T | ENSP00000486706.1:p.Pro686Ser | |
| ENST00000629241.2:c.2026C>T | ENSP00000487142.1:p.Pro676Ser | |
| ENST00000629676.2:c.1679+6297C>T | ENSP00000486194.1:n.1679+6297C>T | |
| NM_004518.4:c.2026C>T | NP_004509.2:p.Pro676Ser | |
| NM_172106.1:c.2056C>T | NP_742104.1:p.Pro686Ser | |
| NM_172107.2:c.2110C>T | NP_742105.1:p.Pro704Ser | |
| NM_172108.3:c.2017C>T | NP_742106.1:p.Pro673Ser | |
| XM_006723787.1:c.2152C>T | XP_006723850.1:p.Pro718Ser | |
| XM_011528807.1:c.2218C>T | XP_011527109.1:p.Pro740Ser | |
| XM_011528808.1:c.2215C>T | XP_011527110.1:p.Pro739Ser | |
| XM_011528809.1:c.2188C>T | XP_011527111.1:p.Pro730Ser | |
| XM_011528810.1:c.2164C>T | XP_011527112.1:p.Pro722Ser | |
| XM_011528811.1:c.2134C>T | XP_011527113.1:p.Pro712Ser | |
| XM_011528812.1:c.2107C>T | XP_011527114.1:p.Pro703Ser | |
| XM_011528813.1:c.2092C>T | XP_011527115.1:p.Pro698Ser | |
| XM_011528814.1:c.1699C>T | XP_011527116.1:p.Pro567Ser | |
| NM_004518.5:c.2026C>T | NP_004509.2:p.Pro676Ser | |
| NM_172106.2:c.2056C>T | NP_742104.1:p.Pro686Ser | |
| NM_172107.3:c.2110C>T | NP_742105.1:p.Pro704Ser | |
| NM_172108.4:c.2017C>T | NP_742106.1:p.Pro673Ser | |
| XM_011528810.2:c.2164C>T | XP_011527112.1:p.Pro722Ser | |
| XM_011528811.2:c.2134C>T | XP_011527113.1:p.Pro712Ser | |
| XM_017027841.2:c.2161C>T | XP_016883330.1:p.Pro721Ser | |
| XM_017027842.2:c.2098C>T | XP_016883331.1:p.Pro700Ser | |
| XM_017027843.1:c.2095C>T | XP_016883332.1:p.Pro699Ser | |
| XM_017027844.2:c.2053C>T | XP_016883333.1:p.Pro685Ser | |
| XM_017027845.1:c.1126C>T | XP_016883334.1:p.Pro376Ser | |
| NM_004518.6:c.2026C>T | NP_004509.2:p.Pro676Ser | |
| NM_172106.3:c.2056C>T | NP_742104.1:p.Pro686Ser | |
| NM_172107.4:c.2110C>T MANE Select | NP_742105.1:p.Pro704Ser | |
| NM_172108.5:c.2017C>T | NP_742106.1:p.Pro673Ser | |
| NM_001382235.1:c.2164C>T | NP_001369164.1:p.Pro722Ser |