Linked Data
dbSNP Id:
rs1680695
gnomAD v2:
14-34408083-T-G
gnomAD v3:
14-33938877-T-G
gnomAD v4:
14-33938877-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33938877T>G , CM000676.2:g.33938877T>G | GRCh38 |
| NC_000014.8:g.34408083T>G , CM000676.1:g.34408083T>G | GRCh37 |
| NC_000014.7:g.33477834T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000250457.9:c.358-7662A>C MANE Select | ENSP00000250457.4:n.358-7662A>C | |
| ENST00000250457.7:c.358-7662A>C | ENSP00000250457.3:n.358-7662A>C | |
| ENST00000487915.6:c.4-7662A>C | ENSP00000451316.1:n.4-7662A>C | |
| ENST00000553215.5:c.76-7662A>C | ENSP00000447470.1:n.76-7662A>C | |
| NM_001308103.1:c.76-7662A>C | NP_001295032.1:n.76-7662A>C | |
| NM_022073.3:c.358-7662A>C | NP_071356.1:n.358-7662A>C | |
| NM_001308103.2:c.76-7662A>C | NP_001295032.1:n.76-7662A>C | |
| NM_022073.4:c.358-7662A>C MANE Select | NP_071356.1:n.358-7662A>C |