Linked Data
dbSNP Id:
rs560712423
gnomAD v2:
2-31571687-T-C
gnomAD v3:
2-31348821-T-C
gnomAD v4:
2-31348821-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31348821T>C , CM000664.2:g.31348821T>C | GRCh38 |
| NC_000002.11:g.31571687T>C , CM000664.1:g.31571687T>C | GRCh37 |
| NC_000002.10:g.31425191T>C | NCBI36 |
| NG_008871.1:g.70925A>G | |
| NG_008871.2:g.70925A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379416.4:c.3051+78A>G MANE Select | ENSP00000368727.3:n.3051+78A>G | |
| ENST00000379416.3:c.3051+78A>G | ENSP00000368727.3:n.3051+78A>G | |
| NM_000379.3:c.3051+78A>G | NP_000370.2:n.3051+78A>G | |
| XM_011533095.1:c.3048+78A>G | XP_011531397.1:n.3048+78A>G | |
| XM_011533096.1:c.3051+78A>G | XP_011531398.1:n.3051+78A>G | |
| XM_011533095.2:c.3048+78A>G | XP_011531397.1:n.3048+78A>G | |
| XM_011533096.2:c.3051+78A>G | XP_011531398.1:n.3051+78A>G | |
| NM_000379.4:c.3051+78A>G MANE Select | NP_000370.2:n.3051+78A>G |