Linked Data
ClinVar Variation Id:
508732
dbSNP Id:
rs754279476
ExAC:
20:62038501 C / T
gnomAD v2:
20-62038501-C-T
gnomAD v3:
20-63407148-C-T
gnomAD v4:
20-63407148-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63407148C>T , CM000682.2:g.63407148C>T | GRCh38 |
| NC_000020.10:g.62038501C>T , CM000682.1:g.62038501C>T | GRCh37 |
| NC_000020.9:g.61508945C>T | NCBI36 |
| NG_009004.1:g.70493G>A | |
| NG_009004.2:g.70493G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2169G>A | ENSP00000516702.1:p.Pro723= | |
| ENST00000359125.7:c.2115G>A MANE Select | ENSP00000352035.2:p.Pro705= | |
| ENST00000637193.1:c.1512G>A | ENSP00000490734.1:p.Pro504= | |
| ENST00000344462.8:c.2022G>A | ENSP00000339611.4:p.Pro674= | |
| ENST00000357249.6:c.1683G>A | ENSP00000349789.3:p.Pro561= | |
| ENST00000359125.6:c.2115G>A | ENSP00000352035.2:p.Pro705= | |
| ENST00000360480.7:c.2031G>A | ENSP00000353668.3:p.Pro677= | |
| ENST00000370224.5:c.2139G>A | ENSP00000359244.2:p.Pro713= | |
| ENST00000625514.2:c.2103G>A | ENSP00000486040.1:p.Pro701= | |
| ENST00000626839.2:c.2061G>A | ENSP00000486706.1:p.Pro687= | |
| ENST00000629241.2:c.2031G>A | ENSP00000487142.1:p.Pro677= | |
| ENST00000629676.2:c.1679+6302G>A | ENSP00000486194.1:n.1679+6302G>A | |
| NM_004518.4:c.2031G>A | NP_004509.2:p.Pro677= | |
| NM_172106.1:c.2061G>A | NP_742104.1:p.Pro687= | |
| NM_172107.2:c.2115G>A | NP_742105.1:p.Pro705= | |
| NM_172108.3:c.2022G>A | NP_742106.1:p.Pro674= | |
| XM_006723787.1:c.2157G>A | XP_006723850.1:p.Pro719= | |
| XM_011528807.1:c.2223G>A | XP_011527109.1:p.Pro741= | |
| XM_011528808.1:c.2220G>A | XP_011527110.1:p.Pro740= | |
| XM_011528809.1:c.2193G>A | XP_011527111.1:p.Pro731= | |
| XM_011528810.1:c.2169G>A | XP_011527112.1:p.Pro723= | |
| XM_011528811.1:c.2139G>A | XP_011527113.1:p.Pro713= | |
| XM_011528812.1:c.2112G>A | XP_011527114.1:p.Pro704= | |
| XM_011528813.1:c.2097G>A | XP_011527115.1:p.Pro699= | |
| XM_011528814.1:c.1704G>A | XP_011527116.1:p.Pro568= | |
| NM_004518.5:c.2031G>A | NP_004509.2:p.Pro677= | |
| NM_172106.2:c.2061G>A | NP_742104.1:p.Pro687= | |
| NM_172107.3:c.2115G>A | NP_742105.1:p.Pro705= | |
| NM_172108.4:c.2022G>A | NP_742106.1:p.Pro674= | |
| XM_011528810.2:c.2169G>A | XP_011527112.1:p.Pro723= | |
| XM_011528811.2:c.2139G>A | XP_011527113.1:p.Pro713= | |
| XM_017027841.2:c.2166G>A | XP_016883330.1:p.Pro722= | |
| XM_017027842.2:c.2103G>A | XP_016883331.1:p.Pro701= | |
| XM_017027843.1:c.2100G>A | XP_016883332.1:p.Pro700= | |
| XM_017027844.2:c.2058G>A | XP_016883333.1:p.Pro686= | |
| XM_017027845.1:c.1131G>A | XP_016883334.1:p.Pro377= | |
| NM_004518.6:c.2031G>A | NP_004509.2:p.Pro677= | |
| NM_172106.3:c.2061G>A | NP_742104.1:p.Pro687= | |
| NM_172107.4:c.2115G>A MANE Select | NP_742105.1:p.Pro705= | |
| NM_172108.5:c.2022G>A | NP_742106.1:p.Pro674= | |
| NM_001382235.1:c.2169G>A | NP_001369164.1:p.Pro723= |