Linked Data
dbSNP Id:
rs1011224641
gnomAD v2:
20-34025987-G-A
gnomAD v3:
20-35438207-G-A
gnomAD v4:
20-35438207-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35438207G>A , CM000682.2:g.35438207G>A | GRCh38 |
| NC_000020.10:g.34025987G>A , CM000682.1:g.34025987G>A | GRCh37 |
| NC_000020.9:g.33489401G>A | NCBI36 |
| NG_008076.2:g.5013C>T | |
| NG_008076.3:g.21540C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374369.8:c.-279C>T MANE Select | ENSP00000363489.3:n.-279C>T | |
| ENST00000374369.7:c.-279C>T | ENSP00000363489.3:n.-279C>T | |
| ENST00000374372.1:c.-241-38C>T | ENSP00000363492.1:n.-241-38C>T | |
| XM_011529075.1:c.-241-38C>T | XP_011527377.1:n.-241-38C>T | |
| XM_011529076.1:c.-241-38C>T | XP_011527378.1:n.-241-38C>T | |
| NM_001319138.1:c.-241-38C>T | NP_001306067.1:n.-241-38C>T | |
| NM_000557.5:c.-279C>T MANE Select | NP_000548.2:n.-279C>T | |
| NM_001319138.2:c.-241-38C>T | NP_001306067.1:n.-241-38C>T |