Linked Data
ClinVar Variation Id:
1116326
ClinVar RCV Id:
RCV001444663
dbSNP Id:
rs1383114026
gnomAD v2:
19-18180498-G-A
gnomAD v3:
19-18069688-G-A
gnomAD v4:
19-18069688-G-A
COSMIC:
COSM281886
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18069688G>A , CM000681.2:g.18069688G>A | GRCh38 |
| NC_000019.9:g.18180498G>A , CM000681.1:g.18180498G>A | GRCh37 |
| NC_000019.8:g.18041498G>A | NCBI36 |
| NG_007366.2:g.34262C>T , LRG_72:g.34262C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593993.7:c.1047C>T MANE Select | ENSP00000472165.2:p.Val349= | |
| ENST00000593993.6:c.1047C>T | ENSP00000472165.2:p.Val349= | |
| ENST00000600835.6:c.1047C>T | ENSP00000470788.1:p.Val349= | |
| NM_001290023.1:c.1047C>T | NP_001276952.1:p.Val349= | |
| NM_001290024.1:c.1167C>T | NP_001276953.1:p.Val389= | |
| NM_005535.2:c.1047C>T | NP_005526.1:p.Val349= | |
| XM_006722741.2:c.1167C>T | XP_006722804.2:p.Val389= | |
| XM_011527966.1:c.1200C>T | XP_011526268.1:p.Val400= | |
| XM_011527967.1:c.1188C>T | XP_011526269.1:p.Val396= | |
| XM_011527968.1:c.1179C>T | XP_011526270.1:p.Val393= | |
| XM_011527969.1:c.1167C>T | XP_011526271.1:p.Val389= | |
| XM_011527970.1:c.1200C>T | XP_011526272.1:p.Val400= | |
| XM_011527971.1:c.1200C>T | XP_011526273.1:p.Val400= | |
| XM_011527972.1:c.1200C>T | XP_011526274.1:p.Val400= | |
| XM_011527973.1:c.1080C>T | XP_011526275.1:p.Val360= | |
| XM_011527974.1:c.1068C>T | XP_011526276.1:p.Val356= | |
| XM_011527975.1:c.1167C>T | XP_011526277.1:p.Val389= | |
| XM_011527976.1:c.1200C>T | XP_011526278.1:p.Val400= | |
| XM_006722741.3:c.1167C>T | XP_006722804.2:p.Val389= | |
| XM_011527966.2:c.1200C>T | XP_011526268.1:p.Val400= | |
| XM_011527967.2:c.1188C>T | XP_011526269.1:p.Val396= | |
| XM_011527968.3:c.1179C>T | XP_011526270.1:p.Val393= | |
| XM_011527969.2:c.1167C>T | XP_011526271.1:p.Val389= | |
| XM_011527970.2:c.1200C>T | XP_011526272.1:p.Val400= | |
| XM_011527971.3:c.1200C>T | XP_011526273.1:p.Val400= | |
| XM_011527972.3:c.1200C>T | XP_011526274.1:p.Val400= | |
| XM_011527973.2:c.1080C>T | XP_011526275.1:p.Val360= | |
| XM_011527974.2:c.1068C>T | XP_011526276.1:p.Val356= | |
| XM_011527975.2:c.1167C>T | XP_011526277.1:p.Val389= | |
| XM_011527976.2:c.1200C>T | XP_011526278.1:p.Val400= | |
| XM_017026762.1:c.465C>T | XP_016882251.1:p.Val155= | |
| NM_001290023.2:c.1047C>T | NP_001276952.1:p.Val349= | |
| NM_005535.3:c.1047C>T MANE Select | NP_005526.1:p.Val349= |