Linked Data
ClinVar Variation Id:
340061
ClinVar RCV Id:
RCV000351136
dbSNP Id:
rs139865555
ExAC:
21:43815510 G / A
gnomAD v2:
21-43815510-G-A
gnomAD v3:
21-42395401-G-A
gnomAD v4:
21-42395401-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42395401G>A , CM000683.2:g.42395401G>A | GRCh38 |
| NC_000021.8:g.43815510G>A , CM000683.1:g.43815510G>A | GRCh37 |
| NC_000021.7:g.42688579G>A | NCBI36 |
| NG_011629.1:g.5691C>T | |
| NG_011629.2:g.5691C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433957.7:c.17C>T | ENSP00000411013.3:p.Pro6Leu | |
| ENST00000644384.2:c.17C>T MANE Select | ENSP00000494414.1:p.Pro6Leu | |
| ENST00000652415.1:c.17C>T | ENSP00000498756.1:p.Pro6Leu | |
| ENST00000291532.7:c.17C>T | ENSP00000291532.3:p.Pro6Leu | |
| ENST00000398397.3:c.17C>T | ENSP00000381434.3:p.Pro6Leu | |
| ENST00000398405.5:c.17C>T | ENSP00000381442.1:p.Pro6Leu | |
| ENST00000433957.6:c.17C>T | ENSP00000411013.2:p.Pro6Leu | |
| NM_001256317.1:c.17C>T | NP_001243246.1:p.Pro6Leu | |
| NM_024022.2:c.17C>T | NP_076927.1:p.Pro6Leu | |
| NM_032405.1:c.17C>T | NP_115781.1:p.Pro6Leu | |
| NR_046020.1:n.973C>T | ||
| NM_001256317.2:c.17C>T | NP_001243246.1:p.Pro6Leu | |
| NM_024022.3:c.17C>T | NP_076927.1:p.Pro6Leu | |
| NM_032405.2:c.17C>T | NP_115781.1:p.Pro6Leu | |
| NM_001256317.3:c.17C>T MANE Select | NP_001243246.1:p.Pro6Leu | |
| NM_024022.4:c.17C>T | NP_076927.1:p.Pro6Leu |