Linked Data
dbSNP Id:
rs758172417
ExAC:
2:21238201 C / T
gnomAD v2:
2-21238201-C-T
gnomAD v3:
2-21015329-C-T
gnomAD v4:
2-21015329-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21015329C>T , CM000664.2:g.21015329C>T | GRCh38 |
| NC_000002.11:g.21238201C>T , CM000664.1:g.21238201C>T | GRCh37 |
| NC_000002.10:g.21091706C>T | NCBI36 |
| NG_011793.1:g.33745G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*2814+41G>A | ENSP00000501110.2:n.*2814+41G>A | |
| ENST00000673882.2:c.*2603+41G>A | ENSP00000501253.2:n.*2603+41G>A | |
| ENST00000673739.1:c.3222+41G>A | ENSP00000501110.1:n.3222+41G>A | |
| ENST00000673882.1:c.3011+41G>A | ENSP00000501253.1:n.3011+41G>A | |
| ENST00000233242.5:c.3508+41G>A MANE Select | ENSP00000233242.1:n.3508+41G>A | |
| ENST00000616098.4:c.3508+41G>A | ENSP00000477990.1:n.3508+41G>A | |
| NM_000384.2:c.3508+41G>A | NP_000375.2:n.3508+41G>A | |
| XM_011532809.1:c.3508+41G>A | XP_011531111.1:n.3508+41G>A | |
| NM_000384.3:c.3508+41G>A MANE Select | NP_000375.3:n.3508+41G>A |