Linked Data
dbSNP Id:
rs12713956
gnomAD v2:
2-21241505-A-G
gnomAD v3:
2-21018633-A-G
gnomAD v4:
2-21018633-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21018633A>G , CM000664.2:g.21018633A>G | GRCh38 |
| NC_000002.11:g.21241505A>G , CM000664.1:g.21241505A>G | GRCh37 |
| NC_000002.10:g.21095010A>G | NCBI36 |
| NG_011793.1:g.30441T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673739.2:c.*2427+359T>C | ENSP00000501110.2:n.*2427+359T>C | |
| ENST00000673882.2:c.*2427+359T>C | ENSP00000501253.2:n.*2427+359T>C | |
| ENST00000673739.1:c.2835+359T>C | ENSP00000501110.1:n.2835+359T>C | |
| ENST00000673882.1:c.2835+359T>C | ENSP00000501253.1:n.2835+359T>C | |
| ENST00000233242.5:c.3121+359T>C MANE Select | ENSP00000233242.1:n.3121+359T>C | |
| ENST00000616098.4:c.3121+359T>C | ENSP00000477990.1:n.3121+359T>C | |
| NM_000384.2:c.3121+359T>C | NP_000375.2:n.3121+359T>C | |
| XM_011532809.1:c.3121+359T>C | XP_011531111.1:n.3121+359T>C | |
| NM_000384.3:c.3121+359T>C MANE Select | NP_000375.3:n.3121+359T>C |