Linked Data
dbSNP Id:
rs774106740
ExAC:
9:101304121 T / A
gnomAD v2:
9-101304121-T-A
gnomAD v4:
9-98541839-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541839T>A , CM000671.2:g.98541839T>A | GRCh38 |
| NC_000009.11:g.101304121T>A , CM000671.1:g.101304121T>A | GRCh37 |
| NC_000009.10:g.100343942T>A | NCBI36 |
| NG_016426.1:g.172359A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.630+34A>T MANE Select | ENSP00000259455.2:n.630+34A>T | |
| ENST00000637410.1:n.408+34A>T | ||
| ENST00000259455.3:c.630+34A>T | ENSP00000259455.2:n.630+34A>T | |
| ENST00000477471.1:n.417+34A>T | ||
| ENST00000634227.1:n.404+34A>T | ||
| NM_005458.7:c.630+34A>T | NP_005449.5:n.630+34A>T | |
| XM_017015331.2:c.336+34A>T | XP_016870820.1:n.336+34A>T | |
| NM_005458.8:c.630+34A>T MANE Select | NP_005449.5:n.630+34A>T |