Linked Data
ClinVar Variation Id:
156685
dbSNP Id:
rs199897804
ExAC:
X:18622765 C / T
gnomAD v2:
X-18622765-C-T
gnomAD v3:
X-18604645-C-T
gnomAD v4:
X-18604645-C-T
ERepo:
CA294755/MONDO:0100039/034
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18604645C>T , CM000685.2:g.18604645C>T | GRCh38 |
| NC_000023.10:g.18622765C>T , CM000685.1:g.18622765C>T | GRCh37 |
| NC_000023.9:g.18532686C>T | NCBI36 |
| NG_008475.1:g.184041C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.1721C>T MANE Select | ENSP00000485244.1:p.Pro574Leu | |
| ENST00000635828.1:c.1721C>T | ENSP00000490170.1:p.Pro574Leu | |
| ENST00000674046.1:c.1721C>T | ENSP00000501174.1:p.Pro574Leu | |
| ENST00000379989.6:c.1721C>T | ENSP00000369325.3:p.Pro574Leu | |
| ENST00000379996.7:c.1721C>T | ENSP00000369332.3:p.Pro574Leu | |
| ENST00000463994.4:c.1721C>T | ENSP00000485184.1:p.Pro574Leu | |
| ENST00000623535.1:c.1721C>T | ENSP00000485244.1:p.Pro574Leu | |
| NM_001037343.1:c.1721C>T | NP_001032420.1:p.Pro574Leu | |
| NM_003159.2:c.1721C>T | NP_003150.1:p.Pro574Leu | |
| XM_011545569.1:c.1670C>T | XP_011543871.1:p.Pro557Leu | |
| XM_011545570.1:c.1589C>T | XP_011543872.1:p.Pro530Leu | |
| XR_950484.1:n.1973C>T | ||
| NM_001323289.1:c.1721C>T | NP_001310218.1:p.Pro574Leu | |
| NM_001323289.2:c.1721C>T MANE Select | NP_001310218.1:p.Pro574Leu | |
| NM_001037343.2:c.1721C>T | NP_001032420.1:p.Pro574Leu | |
| NM_003159.3:c.1721C>T | NP_003150.1:p.Pro574Leu |