Linked Data
dbSNP Id:
rs771374320
ExAC:
13:28608361 T / C
gnomAD v2:
13-28608361-T-C
gnomAD v3:
13-28034224-T-C
gnomAD v4:
13-28034224-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28034224T>C , CM000675.2:g.28034224T>C | GRCh38 |
| NC_000013.10:g.28608361T>C , CM000675.1:g.28608361T>C | GRCh37 |
| NC_000013.9:g.27506361T>C | NCBI36 |
| NG_007066.1:g.71345A>G , LRG_457:g.71345A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241453.12:c.1705-10A>G MANE Select | ENSP00000241453.7:n.1705-10A>G | |
| ENST00000241453.11:c.1705-10A>G | ENSP00000241453.7:n.1705-10A>G | |
| ENST00000380987.2:c.1705-10A>G | ENSP00000370374.2:n.1705-10A>G | |
| NM_004119.2:c.1705-10A>G , LRG_457t1:c.1705-10A>G | NP_004110.2:n.1705-10A>G | |
| NR_130706.1:n.1787-10A>G | ||
| XM_011535015.1:c.1648-10A>G | XP_011533317.1:n.1648-10A>G | |
| XM_011535016.1:c.1180-10A>G | XP_011533318.1:n.1180-10A>G | |
| XM_011535017.1:c.1180-10A>G | XP_011533319.1:n.1180-10A>G | |
| XM_011535018.1:c.1180-10A>G | XP_011533320.1:n.1180-10A>G | |
| XM_011535015.2:c.1648-10A>G | XP_011533317.1:n.1648-10A>G | |
| XM_011535017.2:c.1180-10A>G | XP_011533319.1:n.1180-10A>G | |
| XM_011535018.2:c.1180-10A>G | XP_011533320.1:n.1180-10A>G | |
| XM_017020486.1:c.1489-10A>G | XP_016875975.1:n.1489-10A>G | |
| XM_017020487.1:c.1180-10A>G | XP_016875976.1:n.1180-10A>G | |
| XM_017020488.1:c.826-10A>G | XP_016875977.1:n.826-10A>G | |
| XM_017020489.1:c.808-10A>G | XP_016875978.1:n.808-10A>G | |
| NM_004119.3:c.1705-10A>G MANE Select | NP_004110.2:n.1705-10A>G | |
| NR_130706.2:n.1771-10A>G |