Linked Data
dbSNP Id:
rs748716131
ExAC:
2:220353856 G / C
gnomAD v2:
2-220353856-G-C
gnomAD v3:
2-219489134-G-C
gnomAD v4:
2-219489134-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219489134G>C , CM000664.2:g.219489134G>C | GRCh38 |
| NC_000002.11:g.220353856G>C , CM000664.1:g.220353856G>C | GRCh37 |
| NC_000002.10:g.220062100G>C | NCBI36 |
| NG_051022.1:g.59920G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312358.12:c.8230G>C (SPEG) MANE Select | ENSP00000311684.7:p.Val2744Leu | |
| ENST00000312358.11:c.8230G>C (SPEG) | ENSP00000311684.7:p.Val2744Leu | |
| ENST00000485813.5:n.7473G>C (SPEG) | ||
| NM_005876.4:c.8230G>C (SPEG) | NP_005867.3:p.Val2744Leu | |
| XM_005246237.2:c.7948G>C (SPEG) | XP_005246294.1:p.Val2650Leu | |
| XM_005246239.2:c.5854G>C (SPEG) | XP_005246296.1:p.Val1952Leu | |
| XM_005246240.2:c.5683G>C (SPEG) | XP_005246297.1:p.Val1895Leu | |
| XM_005246241.1:c.5683G>C (SPEG) | XP_005246298.1:p.Val1895Leu | |
| XM_005246242.3:c.5869G>C (SPEG) | XP_005246299.1:p.Val1957Leu | |
| XM_006712189.2:c.7918G>C (SPEG) | XP_006712252.1:p.Val2640Leu | |
| XM_006712193.2:c.5683G>C (SPEG) | XP_006712256.1:p.Val1895Leu | |
| XM_011510479.1:c.8260G>C (SPEG) | XP_011508781.1:p.Val2754Leu | |
| XM_011510480.1:c.8092G>C (SPEG) | XP_011508782.1:p.Val2698Leu | |
| XM_011510481.1:c.8083G>C (SPEG) | XP_011508783.1:p.Val2695Leu | |
| XM_011510482.1:c.8077G>C (SPEG) | XP_011508784.1:p.Val2693Leu | |
| XM_011510483.1:c.7999G>C (SPEG) | XP_011508785.1:p.Val2667Leu | |
| XM_011510484.1:c.7915G>C (SPEG) | XP_011508786.1:p.Val2639Leu | |
| XR_923921.1:n.353-6725C>G (ASIC4-AS1) | ||
| XM_005246242.4:c.5869G>C (SPEG) | XP_005246299.1:p.Val1957Leu | |
| XM_006712189.3:c.7918G>C (SPEG) | XP_006712252.1:p.Val2640Leu | |
| XM_006712193.3:c.5683G>C (SPEG) | XP_006712256.1:p.Val1895Leu | |
| XM_011510479.2:c.8260G>C (SPEG) | XP_011508781.1:p.Val2754Leu | |
| XM_011510483.2:c.7978G>C (SPEG) | XP_011508785.2:p.Val2660Leu | |
| XM_017003157.1:c.7978G>C (SPEG) | XP_016858646.1:p.Val2660Leu | |
| XM_017003158.2:c.5683G>C (SPEG) | XP_016858647.1:p.Val1895Leu | |
| XM_017003160.1:c.3238G>C (SPEG) | XP_016858649.1:p.Val1080Leu | |
| XR_923921.2:n.392-6725C>G (ASIC4-AS1) | ||
| NM_005876.5:c.8230G>C (SPEG) MANE Select | NP_005867.3:p.Val2744Leu |