Linked Data
dbSNP Id:
rs764616296
ExAC:
2:21251167 A / T
gnomAD v2:
2-21251167-A-T
gnomAD v4:
2-21028295-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21028295A>T , CM000664.2:g.21028295A>T | GRCh38 |
| NC_000002.11:g.21251167A>T , CM000664.1:g.21251167A>T | GRCh37 |
| NC_000002.10:g.21104672A>T | NCBI36 |
| NG_011793.1:g.20779T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*1135+32T>A | ENSP00000501110.2:n.*1135+32T>A | |
| ENST00000673882.2:c.*1135+32T>A | ENSP00000501253.2:n.*1135+32T>A | |
| ENST00000673739.1:c.1543+32T>A | ENSP00000501110.1:n.1543+32T>A | |
| ENST00000673882.1:c.1543+32T>A | ENSP00000501253.1:n.1543+32T>A | |
| ENST00000233242.5:c.1829+32T>A MANE Select | ENSP00000233242.1:n.1829+32T>A | |
| ENST00000399256.4:c.1829+32T>A | ENSP00000382200.4:n.1829+32T>A | |
| ENST00000616098.4:c.1829+32T>A | ENSP00000477990.1:n.1829+32T>A | |
| NM_000384.2:c.1829+32T>A | NP_000375.2:n.1829+32T>A | |
| XM_011532809.1:c.1829+32T>A | XP_011531111.1:n.1829+32T>A | |
| NM_000384.3:c.1829+32T>A MANE Select | NP_000375.3:n.1829+32T>A |