Linked Data
dbSNP Id:
rs16972959
gnomAD v2:
16-23901376-G-A
gnomAD v3:
16-23890055-G-A
gnomAD v4:
16-23890055-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23890055G>A , CM000678.2:g.23890055G>A | GRCh38 |
| NC_000016.9:g.23901376G>A , CM000678.1:g.23901376G>A | GRCh37 |
| NC_000016.8:g.23808877G>A | NCBI36 |
| NG_029003.1:g.59077G>A | |
| NG_029003.2:g.59077G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321728.12:c.205+52649G>A | ENSP00000318315.7:n.205+52649G>A | |
| ENST00000643927.1:c.205+52649G>A MANE Select | ENSP00000496129.1:n.205+52649G>A | |
| ENST00000645517.1:n.153-2909G>A | ||
| ENST00000303531.11:c.205+52649G>A | ENSP00000305355.7:n.205+52649G>A | |
| ENST00000321728.11:c.205+52649G>A | ENSP00000318315.7:n.205+52649G>A | |
| ENST00000498739.1:c.-27+52649G>A | ENSP00000459227.1:n.-27+52649G>A | |
| NM_002738.6:c.205+52649G>A | NP_002729.2:n.205+52649G>A | |
| NM_212535.2:c.205+52649G>A | NP_997700.1:n.205+52649G>A | |
| NM_002738.7:c.205+52649G>A MANE Select | NP_002729.2:n.205+52649G>A | |
| NM_212535.3:c.205+52649G>A | NP_997700.1:n.205+52649G>A |