Linked Data
dbSNP Id:
rs1233388890
gnomAD v2:
1-154548715-G-A
gnomAD v3:
1-154576239-G-A
gnomAD v4:
1-154576239-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154576239G>A , CM000663.2:g.154576239G>A | GRCh38 |
| NC_000001.10:g.154548715G>A , CM000663.1:g.154548715G>A | GRCh37 |
| NC_000001.9:g.152815339G>A | NCBI36 |
| NG_008027.1:g.13459G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.*307G>A MANE Select | ENSP00000357461.3:n.*307G>A | |
| ENST00000636034.1:c.1505+311G>A | ENSP00000489703.1:n.1505+311G>A | |
| ENST00000637900.1:c.*307G>A | ENSP00000490474.1:n.*307G>A | |
| ENST00000368476.3:c.*307G>A | ENSP00000357461.3:n.*307G>A | |
| NM_000748.2:c.*307G>A | NP_000739.1:n.*307G>A | |
| XM_017000180.2:c.*307G>A | XP_016855669.1:n.*307G>A | |
| XR_001736952.2:n.2068G>A | ||
| NM_000748.3:c.*307G>A MANE Select | NP_000739.1:n.*307G>A |