Linked Data
dbSNP Id:
rs752964221
ExAC:
19:12997853 C / T
gnomAD v2:
19-12997853-C-T
gnomAD v4:
19-12887039-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887039C>T , CM000681.2:g.12887039C>T | GRCh38 |
| NC_000019.9:g.12997853C>T , CM000681.1:g.12997853C>T | GRCh37 |
| NC_000019.8:g.12858853C>T | NCBI36 |
| NG_009292.1:g.880C>T | |
| NG_013087.1:g.5165G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.87+15G>A MANE Select | ENSP00000264834.3:n.87+15G>A | |
| ENST00000264834.4:c.87+15G>A | ENSP00000264834.3:n.87+15G>A | |
| NM_006563.3:c.87+15G>A | NP_006554.1:n.87+15G>A | |
| XM_011527642.1:c.-117+15G>A | XP_011525944.1:n.-117+15G>A | |
| NM_006563.4:c.87+15G>A | NP_006554.1:n.87+15G>A | |
| XM_011527642.2:c.-117+15G>A | XP_011525944.1:n.-117+15G>A | |
| NM_006563.5:c.87+15G>A MANE Select | NP_006554.1:n.87+15G>A |