Linked Data
ClinVar Variation Id:
201621
ClinVar RCV Id:
RCV000183238
dbSNP Id:
rs794728957
gnomAD v3:
12-21815890-G-A
gnomAD v4:
12-21815890-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21815890G>A , CM000674.2:g.21815890G>A | GRCh38 |
| NC_000012.11:g.21968824G>A , CM000674.1:g.21968824G>A | GRCh37 |
| NC_000012.10:g.21860091G>A | NCBI36 |
| NG_012819.1:g.125805C>T , LRG_377:g.125805C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261201.10:c.3896C>T | ENSP00000261201.4:p.Pro1299Leu | |
| ENST00000682426.1:n.1473C>T | ||
| ENST00000682879.1:c.*2994C>T | ENSP00000508210.1:n.*2994C>T | |
| ENST00000683105.1:c.3775C>T | ENSP00000506801.1:p.Leu1259Phe | |
| ENST00000683676.1:c.3896C>T | ENSP00000508167.1:p.Pro1299Leu | |
| ENST00000683695.1:n.361C>T | ||
| ENST00000683811.1:n.4239C>T | ||
| ENST00000684084.1:c.3845C>T | ENSP00000507859.1:p.Pro1282Leu | |
| ENST00000261200.9:c.3896C>T MANE Select | ENSP00000261200.4:p.Pro1299Leu | |
| ENST00000261201.9:c.3896C>T | ENSP00000261201.4:p.Pro1299Leu | |
| ENST00000261200.8:c.3896C>T | ENSP00000261200.4:p.Pro1299Leu | |
| ENST00000261201.8:c.3896C>T | ENSP00000261201.4:p.Pro1299Leu | |
| ENST00000544039.5:c.2777C>T | ENSP00000440521.1:p.Pro926Leu | |
| NM_005691.3:c.3896C>T | NP_005682.2:p.Pro1299Leu | |
| NM_020297.3:c.3896C>T | NP_064693.2:p.Pro1299Leu | |
| XM_005253284.2:c.3896C>T | XP_005253341.1:p.Pro1299Leu | |
| XM_005253286.2:c.3896C>T | XP_005253343.1:p.Pro1299Leu | |
| XM_005253287.3:c.3896C>T | XP_005253344.1:p.Pro1299Leu | |
| XM_005253288.2:c.3896C>T | XP_005253345.1:p.Pro1299Leu | |
| XM_005253289.2:c.3857C>T | XP_005253346.1:p.Pro1286Leu | |
| XM_005253290.2:c.3755C>T | XP_005253347.1:p.Pro1252Leu | |
| XM_006719025.2:c.3857C>T | XP_006719088.1:p.Pro1286Leu | |
| XM_011520545.1:c.3896C>T | XP_011518847.1:p.Pro1299Leu | |
| XR_931420.1:n.632-11320G>A | ||
| XR_931421.1:n.632-11320G>A | ||
| XR_931422.1:n.306-11320G>A | ||
| XM_005253284.4:c.3896C>T | XP_005253341.1:p.Pro1299Leu | |
| XM_005253286.4:c.3896C>T | XP_005253343.1:p.Pro1299Leu | |
| XM_005253287.5:c.3896C>T | XP_005253344.1:p.Pro1299Leu | |
| XM_005253288.4:c.3896C>T | XP_005253345.1:p.Pro1299Leu | |
| XM_005253289.4:c.3857C>T | XP_005253346.1:p.Pro1286Leu | |
| XM_005253290.4:c.3755C>T | XP_005253347.1:p.Pro1252Leu | |
| XM_006719025.4:c.3857C>T | XP_006719088.1:p.Pro1286Leu | |
| XM_011520545.3:c.3896C>T | XP_011518847.1:p.Pro1299Leu | |
| XR_931420.3:n.632-11320G>A | ||
| XR_931422.2:n.318-11320G>A | ||
| NM_001377273.1:c.3896C>T | NP_001364202.1:p.Pro1299Leu | |
| NM_001377274.1:c.3029C>T | NP_001364203.1:p.Pro1010Leu | |
| NM_005691.4:c.3896C>T | NP_005682.2:p.Pro1299Leu | |
| NM_020297.4:c.3896C>T MANE Select | NP_064693.2:p.Pro1299Leu |