Linked Data
dbSNP Id:
rs764296943
ExAC:
2:208994151 T / C
gnomAD v2:
2-208994151-T-C
gnomAD v4:
2-208129427-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129427T>C , CM000664.2:g.208129427T>C | GRCh38 |
| NC_000002.11:g.208994151T>C , CM000664.1:g.208994151T>C | GRCh37 |
| NC_000002.10:g.208702396T>C | NCBI36 |
| NG_008038.1:g.5404A>G | |
| NG_008039.1:g.163A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.252+14A>G MANE Select | ENSP00000282141.3:n.252+14A>G | |
| ENST00000282141.3:c.252+14A>G | ENSP00000282141.3:n.252+14A>G | |
| NM_020989.3:c.252+14A>G | NP_066269.1:n.252+14A>G | |
| NR_038437.1:n.98-7629T>C | ||
| XM_011510661.1:c.252+14A>G | XP_011508963.1:n.252+14A>G | |
| XM_011510662.1:c.252+14A>G | XP_011508964.1:n.252+14A>G | |
| XM_011510663.1:c.123+14A>G | XP_011508965.1:n.123+14A>G | |
| NM_020989.4:c.252+14A>G MANE Select | NP_066269.1:n.252+14A>G |