Linked Data
ClinVar Variation Id:
2146077
ClinVar RCV Id:
RCV003074378
dbSNP Id:
rs937416850
gnomAD v2:
19-13198815-G-A
gnomAD v3:
19-13088001-G-A
gnomAD v4:
19-13088001-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13088001G>A , CM000681.2:g.13088001G>A | GRCh38 |
| NC_000019.9:g.13198815G>A , CM000681.1:g.13198815G>A | GRCh37 |
| NC_000019.8:g.13059815G>A | NCBI36 |
| NG_032925.2:g.97232G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358552.8:c.1141G>A | ENSP00000351354.5:p.Gly381Ser | |
| ENST00000622520.2:c.1076-2298G>A | ENSP00000481181.2:n.1076-2298G>A | |
| ENST00000693124.1:c.774-2298G>A | ||
| ENST00000592199.6:c.1267G>A MANE Select | ENSP00000467512.1:p.Gly423Ser | |
| ENST00000676441.1:c.1291G>A | ENSP00000502554.1:p.Gly431Ser | |
| ENST00000358552.7:c.1141-2298G>A | ENSP00000351354.4:n.1141-2298G>A | |
| ENST00000360105.8:c.1141-2298G>A | ENSP00000353219.4:n.1141-2298G>A | |
| ENST00000397661.6:c.1255-2298G>A | ENSP00000380781.2:n.1255-2298G>A | |
| ENST00000585575.5:c.1243G>A | ENSP00000468794.1:p.Gly415Ser | |
| ENST00000586797.5:c.*1098G>A | ENSP00000467536.1:n.*1098G>A | |
| ENST00000587260.1:c.1252-2298G>A | ENSP00000467785.1:n.1252-2298G>A | |
| ENST00000587760.5:c.1231-2298G>A | ENSP00000466389.1:n.1231-2298G>A | |
| ENST00000588228.5:c.1126G>A | ENSP00000466735.1:p.Gly376Ser | |
| ENST00000592199.5:c.1267G>A | ENSP00000467512.1:p.Gly423Ser | |
| NM_001271043.2:c.1291G>A | NP_001257972.1:p.Gly431Ser | |
| NM_001271044.2:c.1231-2298G>A | NP_001257973.1:n.1231-2298G>A | |
| NM_002501.3:c.1255-2298G>A | NP_002492.2:n.1255-2298G>A | |
| XM_005259917.3:c.1321G>A | XP_005259974.1:p.Gly441Ser | |
| XM_005259918.3:c.1267G>A | XP_005259975.1:p.Gly423Ser | |
| XM_005259919.3:c.1432-2298G>A | XP_005259976.1:n.1432-2298G>A | |
| XM_005259920.3:c.1243G>A | XP_005259977.1:p.Gly415Ser | |
| XM_005259921.3:c.1256-2298G>A | XP_005259978.1:n.1256-2298G>A | |
| XM_005259922.3:c.1133-2298G>A | XP_005259979.1:n.1133-2298G>A | |
| XM_006722760.2:c.1309-2298G>A | XP_006722823.1:n.1309-2298G>A | |
| XM_011528040.1:c.1315G>A | XP_011526342.1:p.Gly439Ser | |
| NM_001365902.1:c.1267G>A | NP_001352831.1:p.Gly423Ser | |
| NM_001365982.1:c.1132-2298G>A | NP_001352911.1:n.1132-2298G>A | |
| NM_001365983.1:c.1114-2298G>A | NP_001352912.1:n.1114-2298G>A | |
| NM_001365984.1:c.1264G>A | NP_001352913.1:p.Gly422Ser | |
| NM_001365985.1:c.1252-2298G>A | NP_001352914.1:n.1252-2298G>A | |
| XM_005259917.4:c.1321G>A | XP_005259974.1:p.Gly441Ser | |
| NM_001271044.3:c.1231-2298G>A | NP_001257973.1:n.1231-2298G>A | |
| NM_001365902.2:c.1267G>A | NP_001352831.1:p.Gly423Ser | |
| NM_001365982.2:c.1132-2298G>A | NP_001352911.1:n.1132-2298G>A | |
| NM_001365983.2:c.1114-2298G>A | NP_001352912.1:n.1114-2298G>A | |
| NM_001365984.2:c.1264G>A | NP_001352913.1:p.Gly422Ser | |
| NM_001365985.2:c.1252-2298G>A | NP_001352914.1:n.1252-2298G>A | |
| NM_002501.4:c.1255-2298G>A | NP_002492.2:n.1255-2298G>A | |
| NM_001365902.3:c.1267G>A MANE Select | NP_001352831.1:p.Gly423Ser | |
| NM_001378404.1:c.1243G>A | NP_001365333.1:p.Gly415Ser | |
| NM_001378405.1:c.1315G>A | NP_001365334.1:p.Gly439Ser |