Linked Data
ClinVar Variation Id:
21768
dbSNP Id:
rs118192236
gnomAD v3:
20-63413472-G-A
gnomAD v4:
20-63413472-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63413472G>A , CM000682.2:g.63413472G>A | GRCh38 |
| NC_000020.10:g.62044825G>A , CM000682.1:g.62044825G>A | GRCh37 |
| NC_000020.9:g.61515269G>A | NCBI36 |
| NG_009004.1:g.64169C>T | |
| NG_009004.2:g.64169C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706989.1:c.1687C>T | ENSP00000516702.1:p.Arg563Ter | |
| ENST00000359125.7:c.1741C>T MANE Select | ENSP00000352035.2:p.Arg581Ter | |
| ENST00000637193.1:c.1138C>T | ENSP00000490734.1:p.Arg380Ter | |
| ENST00000344462.8:c.1648C>T | ENSP00000339611.4:p.Arg550Ter | |
| ENST00000357249.6:c.1309C>T | ENSP00000349789.3:p.Arg437Ter | |
| ENST00000359125.6:c.1741C>T | ENSP00000352035.2:p.Arg581Ter | |
| ENST00000360480.7:c.1657C>T | ENSP00000353668.3:p.Arg553Ter | |
| ENST00000370224.5:c.1657C>T | ENSP00000359244.2:p.Arg553Ter | |
| ENST00000625514.2:c.1621C>T | ENSP00000486040.1:p.Arg541Ter | |
| ENST00000626839.2:c.1687C>T | ENSP00000486706.1:p.Arg563Ter | |
| ENST00000629241.2:c.1657C>T | ENSP00000487142.1:p.Arg553Ter | |
| ENST00000629318.1:c.349C>T | ENSP00000487384.1:p.Arg117Ter | |
| ENST00000629676.2:c.1657C>T | ENSP00000486194.1:p.Arg553Ter | |
| NM_004518.4:c.1657C>T | NP_004509.2:p.Arg553Ter | |
| NM_172106.1:c.1687C>T | NP_742104.1:p.Arg563Ter | |
| NM_172107.2:c.1741C>T | NP_742105.1:p.Arg581Ter | |
| NM_172108.3:c.1648C>T | NP_742106.1:p.Arg550Ter | |
| XM_006723787.1:c.1741C>T | XP_006723850.1:p.Arg581Ter | |
| XM_011528807.1:c.1741C>T | XP_011527109.1:p.Arg581Ter | |
| XM_011528808.1:c.1738C>T | XP_011527110.1:p.Arg580Ter | |
| XM_011528809.1:c.1711C>T | XP_011527111.1:p.Arg571Ter | |
| XM_011528810.1:c.1687C>T | XP_011527112.1:p.Arg563Ter | |
| XM_011528811.1:c.1657C>T | XP_011527113.1:p.Arg553Ter | |
| XM_011528812.1:c.1738C>T | XP_011527114.1:p.Arg580Ter | |
| XM_011528813.1:c.1615C>T | XP_011527115.1:p.Arg539Ter | |
| XM_011528814.1:c.1222C>T | XP_011527116.1:p.Arg408Ter | |
| XM_011528815.1:c.1741C>T | XP_011527117.1:p.Arg581Ter | |
| NM_004518.5:c.1657C>T | NP_004509.2:p.Arg553Ter | |
| NM_172106.2:c.1687C>T | NP_742104.1:p.Arg563Ter | |
| NM_172107.3:c.1741C>T | NP_742105.1:p.Arg581Ter | |
| NM_172108.4:c.1648C>T | NP_742106.1:p.Arg550Ter | |
| XM_011528810.2:c.1687C>T | XP_011527112.1:p.Arg563Ter | |
| XM_011528811.2:c.1657C>T | XP_011527113.1:p.Arg553Ter | |
| XM_017027841.2:c.1684C>T | XP_016883330.1:p.Arg562Ter | |
| XM_017027842.2:c.1687C>T | XP_016883331.1:p.Arg563Ter | |
| XM_017027843.1:c.1618C>T | XP_016883332.1:p.Arg540Ter | |
| XM_017027844.2:c.1684C>T | XP_016883333.1:p.Arg562Ter | |
| XM_017027845.1:c.649C>T | XP_016883334.1:p.Arg217Ter | |
| NM_004518.6:c.1657C>T | NP_004509.2:p.Arg553Ter | |
| NM_172106.3:c.1687C>T | NP_742104.1:p.Arg563Ter | |
| NM_172107.4:c.1741C>T MANE Select | NP_742105.1:p.Arg581Ter | |
| NM_172108.5:c.1648C>T | NP_742106.1:p.Arg550Ter | |
| NM_001382235.1:c.1687C>T | NP_001369164.1:p.Arg563Ter |