Linked Data
ClinVar Variation Id:
225268
ClinVar RCV Id:
RCV000210862
dbSNP Id:
rs4385801
gnomAD:
10:127511790 G / T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125823221G>T , CM000672.2:g.125823221G>T | GRCh38 |
| NC_000010.10:g.127511790G>T , CM000672.1:g.127511790G>T | GRCh37 |
| NC_000010.9:g.127501780G>T | NCBI36 |
| NG_011557.1:g.5048C>A | |
| NG_029095.1:g.4687G>T | |
| NG_011557.2:g.5048C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368797.10:c.-219C>A MANE Select | ENSP00000357787.4:n.-219C>A | |
| ENST00000368797.8:c.-219C>A | ENSP00000357787.4:n.-219C>A | |
| ENST00000420761.5:c.-219C>A | ENSP00000414833.1:n.-219C>A | |
| NM_000375.2:c.-219C>A | NP_000366.1:n.-219C>A | |
| XM_006717960.2:c.-41C>A | XP_006718023.1:n.-41C>A | |
| NM_000375.3:c.-219C>A MANE Select | NP_000366.1:n.-219C>A | |
| NM_001324036.1:c.-219C>A | NP_001310965.1:n.-219C>A | |
| NM_001324037.1:c.-219C>A | NP_001310966.1:n.-219C>A | |
| NM_001324038.1:c.-219C>A | NP_001310967.1:n.-219C>A | |
| NM_001324039.1:c.-219C>A | NP_001310968.1:n.-219C>A | |
| NR_136675.1:n.48C>A | ||
| NR_136676.1:n.48C>A | ||
| NR_136677.1:n.48C>A | ||
| NR_136678.1:n.48C>A | ||
| XM_017016611.2:c.-41C>A | XP_016872100.2:n.-41C>A | |
| XM_024448154.1:c.-41C>A | XP_024303922.1:n.-41C>A | |
| XM_024448155.1:c.-219C>A | XP_024303923.1:n.-219C>A | |
| XR_002957010.1:n.24C>A | ||
| NM_001324036.2:c.-219C>A | NP_001310965.1:n.-219C>A | |
| NM_001324037.2:c.-219C>A | NP_001310966.1:n.-219C>A | |
| NM_001324038.2:c.-219C>A | NP_001310967.1:n.-219C>A | |
| NR_136675.2:n.38C>A | ||
| NR_136676.2:n.38C>A | ||
| NR_136678.2:n.38C>A | ||
| NM_001324039.2:c.-219C>A | NP_001310968.1:n.-219C>A | |
| NR_136677.2:n.38C>A |