Linked Data
ClinVar Variation Id:
225255
dbSNP Id:
rs144972972
ExAC:
6:151751289 T / C
gnomAD v2:
6-151751289-T-C
gnomAD v3:
6-151430154-T-C
gnomAD v4:
6-151430154-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151430154T>C , CM000668.2:g.151430154T>C | GRCh38 |
| NC_000006.11:g.151751289T>C , CM000668.1:g.151751289T>C | GRCh37 |
| NC_000006.10:g.151792982T>C | NCBI36 |
| NG_033031.1:g.27028A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644054.2:c.739A>G | ENSP00000496328.2:p.Met247Val | |
| ENST00000646926.2:c.713A>G | ENSP00000494215.2:p.Asn238Ser | |
| ENST00000682004.1:n.884A>G | ||
| ENST00000682299.1:c.713A>G | ENSP00000506811.1:p.Asn238Ser | |
| ENST00000682392.1:c.713A>G | ENSP00000508314.1:p.Asn238Ser | |
| ENST00000682641.1:c.713A>G | ENSP00000506793.1:p.Asn238Ser | |
| ENST00000682760.1:n.858A>G | ||
| ENST00000683439.1:n.858A>G | ||
| ENST00000683724.1:c.713A>G | ENSP00000507984.1:p.Asn238Ser | |
| ENST00000683740.1:n.858A>G | ||
| ENST00000684301.1:c.*112A>G | ENSP00000507824.1:n.*112A>G | |
| ENST00000684605.1:n.1253A>G | ||
| ENST00000684658.1:n.858A>G | ||
| ENST00000684715.1:n.858A>G | ||
| ENST00000684765.1:c.713A>G | ENSP00000507910.1:p.Asn238Ser | |
| ENST00000336451.8:c.*112A>G | ENSP00000336683.4:n.*112A>G | |
| ENST00000444024.3:c.713A>G MANE Select | ENSP00000412708.2:p.Asn238Ser | |
| ENST00000622845.5:c.203A>G | ENSP00000481280.1:p.Asn68Ser | |
| ENST00000643550.1:n.507A>G | ||
| ENST00000644054.1:c.636A>G | ||
| ENST00000644711.1:c.713A>G | ENSP00000494106.1:p.Asn238Ser | |
| ENST00000645367.1:n.857A>G | ||
| ENST00000645895.1:n.830A>G | ||
| ENST00000646926.1:c.121A>G | ||
| ENST00000336451.7:c.80A>G | ENSP00000336683.3:p.Asn27Ser | |
| ENST00000367303.8:c.713A>G | ENSP00000356272.4:p.Asn238Ser | |
| ENST00000444024.1:c.203A>G | ENSP00000412708.1:p.Asn68Ser | |
| ENST00000622845.4:c.203A>G | ENSP00000481280.1:p.Asn68Ser | |
| NM_001271937.1:c.203A>G | NP_001258866.1:p.Asn68Ser | |
| NM_017909.3:c.713A>G | NP_060379.2:p.Asn238Ser | |
| XM_005267040.2:c.80A>G | XP_005267097.1:p.Asn27Ser | |
| XR_942497.1:n.893A>G | ||
| XM_005267040.4:c.80A>G | XP_005267097.1:p.Asn27Ser | |
| XM_017010988.2:c.80A>G | XP_016866477.1:p.Asn27Ser | |
| XR_001743503.2:n.881A>G | ||
| XR_002956288.1:n.838A>G | ||
| NM_017909.4:c.713A>G MANE Select | NP_060379.2:p.Asn238Ser | |
| NM_001271937.2:c.203A>G | NP_001258866.1:p.Asn68Ser |