Linked Data
ClinVar Variation Id:
541818
ClinVar RCV Id:
RCV000652147
dbSNP Id:
rs745668246
ExAC:
19:18177468 T / G
gnomAD v2:
19-18177468-T-G
gnomAD v4:
19-18066658-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18066658T>G , CM000681.2:g.18066658T>G | GRCh38 |
| NC_000019.9:g.18177468T>G , CM000681.1:g.18177468T>G | GRCh37 |
| NC_000019.8:g.18038468T>G | NCBI36 |
| NG_007366.2:g.37292A>C , LRG_72:g.37292A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593993.7:c.1367A>C MANE Select | ENSP00000472165.2:p.Asn456Thr | |
| ENST00000593993.6:c.1367A>C | ENSP00000472165.2:p.Asn456Thr | |
| ENST00000600835.6:c.1367A>C | ENSP00000470788.1:p.Asn456Thr | |
| NM_001290023.1:c.1367A>C | NP_001276952.1:p.Asn456Thr | |
| NM_001290024.1:c.1487A>C | NP_001276953.1:p.Asn496Thr | |
| NM_005535.2:c.1367A>C | NP_005526.1:p.Asn456Thr | |
| XM_006722741.2:c.1487A>C | XP_006722804.2:p.Asn496Thr | |
| XM_011527966.1:c.1520A>C | XP_011526268.1:p.Asn507Thr | |
| XM_011527967.1:c.1508A>C | XP_011526269.1:p.Asn503Thr | |
| XM_011527968.1:c.1499A>C | XP_011526270.1:p.Asn500Thr | |
| XM_011527969.1:c.1487A>C | XP_011526271.1:p.Asn496Thr | |
| XM_011527970.1:c.1520A>C | XP_011526272.1:p.Asn507Thr | |
| XM_011527971.1:c.1520A>C | XP_011526273.1:p.Asn507Thr | |
| XM_011527972.1:c.1520A>C | XP_011526274.1:p.Asn507Thr | |
| XM_011527973.1:c.1400A>C | XP_011526275.1:p.Asn467Thr | |
| XM_011527974.1:c.1388A>C | XP_011526276.1:p.Asn463Thr | |
| XM_011527975.1:c.1487A>C | XP_011526277.1:p.Asn496Thr | |
| XM_011527976.1:c.1520A>C | XP_011526278.1:p.Asn507Thr | |
| XM_006722741.3:c.1487A>C | XP_006722804.2:p.Asn496Thr | |
| XM_011527966.2:c.1520A>C | XP_011526268.1:p.Asn507Thr | |
| XM_011527967.2:c.1508A>C | XP_011526269.1:p.Asn503Thr | |
| XM_011527968.3:c.1499A>C | XP_011526270.1:p.Asn500Thr | |
| XM_011527969.2:c.1487A>C | XP_011526271.1:p.Asn496Thr | |
| XM_011527970.2:c.1520A>C | XP_011526272.1:p.Asn507Thr | |
| XM_011527971.3:c.1520A>C | XP_011526273.1:p.Asn507Thr | |
| XM_011527972.3:c.1520A>C | XP_011526274.1:p.Asn507Thr | |
| XM_011527973.2:c.1400A>C | XP_011526275.1:p.Asn467Thr | |
| XM_011527974.2:c.1388A>C | XP_011526276.1:p.Asn463Thr | |
| XM_011527975.2:c.1487A>C | XP_011526277.1:p.Asn496Thr | |
| XM_011527976.2:c.1520A>C | XP_011526278.1:p.Asn507Thr | |
| XM_017026762.1:c.785A>C | XP_016882251.1:p.Asn262Thr | |
| NM_001290023.2:c.1367A>C | NP_001276952.1:p.Asn456Thr | |
| NM_005535.3:c.1367A>C MANE Select | NP_005526.1:p.Asn456Thr |