Linked Data
ClinVar Variation Id:
1261166
ClinVar RCV Id:
RCV001671567
dbSNP Id:
rs1041740
gnomAD v2:
21-33040162-C-T
gnomAD v3:
21-31667849-C-T
gnomAD v4:
21-31667849-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667849C>T , CM000683.2:g.31667849C>T | GRCh38 |
| NC_000021.8:g.33040162C>T , CM000683.1:g.33040162C>T | GRCh37 |
| NC_000021.7:g.31962033C>T | NCBI36 |
| NG_008689.1:g.13228C>T , LRG_652:g.13228C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270142.11:c.357+474C>T MANE Select | ENSP00000270142.7:n.357+474C>T | |
| ENST00000270142.10:c.357+474C>T | ENSP00000270142.6:n.357+474C>T | |
| ENST00000389995.4:c.300+474C>T | ENSP00000374645.4:n.300+474C>T | |
| ENST00000470944.1:n.1285+474C>T | ||
| NM_000454.4:c.357+474C>T , LRG_652t1:c.357+474C>T | NP_000445.1:n.357+474C>T | |
| NM_000454.5:c.357+474C>T MANE Select | NP_000445.1:n.357+474C>T |