Linked Data
dbSNP Id:
rs538541545
ExAC:
19:18180424 A / G
gnomAD v2:
19-18180424-A-G
gnomAD v3:
19-18069614-A-G
gnomAD v4:
19-18069614-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18069614A>G , CM000681.2:g.18069614A>G | GRCh38 |
| NC_000019.9:g.18180424A>G , CM000681.1:g.18180424A>G | GRCh37 |
| NC_000019.8:g.18041424A>G | NCBI36 |
| NG_007366.2:g.34336T>C , LRG_72:g.34336T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593993.7:c.1121T>C MANE Select | ENSP00000472165.2:p.Val374Ala | |
| ENST00000593993.6:c.1121T>C | ENSP00000472165.2:p.Val374Ala | |
| ENST00000600835.6:c.1121T>C | ENSP00000470788.1:p.Val374Ala | |
| NM_001290023.1:c.1121T>C | NP_001276952.1:p.Val374Ala | |
| NM_001290024.1:c.1241T>C | NP_001276953.1:p.Val414Ala | |
| NM_005535.2:c.1121T>C | NP_005526.1:p.Val374Ala | |
| XM_006722741.2:c.1241T>C | XP_006722804.2:p.Val414Ala | |
| XM_011527966.1:c.1274T>C | XP_011526268.1:p.Val425Ala | |
| XM_011527967.1:c.1262T>C | XP_011526269.1:p.Val421Ala | |
| XM_011527968.1:c.1253T>C | XP_011526270.1:p.Val418Ala | |
| XM_011527969.1:c.1241T>C | XP_011526271.1:p.Val414Ala | |
| XM_011527970.1:c.1274T>C | XP_011526272.1:p.Val425Ala | |
| XM_011527971.1:c.1274T>C | XP_011526273.1:p.Val425Ala | |
| XM_011527972.1:c.1274T>C | XP_011526274.1:p.Val425Ala | |
| XM_011527973.1:c.1154T>C | XP_011526275.1:p.Val385Ala | |
| XM_011527974.1:c.1142T>C | XP_011526276.1:p.Val381Ala | |
| XM_011527975.1:c.1241T>C | XP_011526277.1:p.Val414Ala | |
| XM_011527976.1:c.1274T>C | XP_011526278.1:p.Val425Ala | |
| XM_006722741.3:c.1241T>C | XP_006722804.2:p.Val414Ala | |
| XM_011527966.2:c.1274T>C | XP_011526268.1:p.Val425Ala | |
| XM_011527967.2:c.1262T>C | XP_011526269.1:p.Val421Ala | |
| XM_011527968.3:c.1253T>C | XP_011526270.1:p.Val418Ala | |
| XM_011527969.2:c.1241T>C | XP_011526271.1:p.Val414Ala | |
| XM_011527970.2:c.1274T>C | XP_011526272.1:p.Val425Ala | |
| XM_011527971.3:c.1274T>C | XP_011526273.1:p.Val425Ala | |
| XM_011527972.3:c.1274T>C | XP_011526274.1:p.Val425Ala | |
| XM_011527973.2:c.1154T>C | XP_011526275.1:p.Val385Ala | |
| XM_011527974.2:c.1142T>C | XP_011526276.1:p.Val381Ala | |
| XM_011527975.2:c.1241T>C | XP_011526277.1:p.Val414Ala | |
| XM_011527976.2:c.1274T>C | XP_011526278.1:p.Val425Ala | |
| XM_017026762.1:c.539T>C | XP_016882251.1:p.Val180Ala | |
| NM_001290023.2:c.1121T>C | NP_001276952.1:p.Val374Ala | |
| NM_005535.3:c.1121T>C MANE Select | NP_005526.1:p.Val374Ala |