Linked Data
ClinVar Variation Id:
8221
dbSNP Id:
rs199476091
ExAC:
9:98241320 C / T
gnomAD v2:
9-98241320-C-T
gnomAD v3:
9-95479038-C-T
gnomAD v4:
9-95479038-C-T
PubMed:
PMID:11941477
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95479038C>T , CM000671.2:g.95479038C>T | GRCh38 |
| NC_000009.11:g.98241320C>T , CM000671.1:g.98241320C>T | GRCh37 |
| NC_000009.10:g.97281141C>T | NCBI36 |
| NG_007664.1:g.42928G>A , LRG_515:g.42928G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000711046.1:c.979G>A | ENSP00000518556.1:p.Ala327Thr | |
| ENST00000437951.6:c.1174G>A MANE Plus Clinical | ENSP00000389744.2:p.Ala392Thr | |
| ENST00000690194.1:c.724G>A | ENSP00000509379.1:p.Ala242Thr | |
| ENST00000692981.1:c.724G>A | ENSP00000510238.1:p.Ala242Thr | |
| ENST00000331920.11:c.1177G>A MANE Select | ENSP00000332353.6:p.Ala393Thr | |
| ENST00000331920.10:c.1177G>A | ENSP00000332353.6:p.Ala393Thr | |
| ENST00000375271.4:c.328G>A | ENSP00000364420.4:p.Ala110Thr | |
| ENST00000375274.6:c.1174G>A | ENSP00000364423.2:p.Ala392Thr | |
| ENST00000375290.6:c.814G>A | ENSP00000364439.2:p.Ala272Thr | |
| ENST00000418258.5:c.724G>A | ENSP00000396135.1:p.Ala242Thr | |
| ENST00000421141.5:c.724G>A | ENSP00000399981.1:p.Ala242Thr | |
| ENST00000429896.6:c.724G>A | ENSP00000414823.2:p.Ala242Thr | |
| ENST00000430669.6:c.979G>A | ENSP00000410287.2:p.Ala327Thr | |
| ENST00000437951.5:c.979G>A | ENSP00000389744.1:p.Ala327Thr | |
| NM_000264.3:c.1177G>A , LRG_515t1:c.1177G>A | NP_000255.2:p.Ala393Thr | |
| NM_001083602.1:c.979G>A , LRG_515t2:c.979G>A | NP_001077071.1:p.Ala327Thr | |
| NM_001083603.1:c.1174G>A | NP_001077072.1:p.Ala392Thr | |
| NM_001083604.1:c.724G>A | NP_001077073.1:p.Ala242Thr | |
| NM_001083605.1:c.724G>A | NP_001077074.1:p.Ala242Thr | |
| NM_001083606.1:c.724G>A | NP_001077075.1:p.Ala242Thr | |
| NM_001083607.1:c.724G>A | NP_001077076.1:p.Ala242Thr | |
| XM_005252102.2:c.724G>A | XP_005252159.1:p.Ala242Thr | |
| XM_011518868.1:c.1177G>A | XP_011517170.1:p.Ala393Thr | |
| XM_011518869.1:c.724G>A | XP_011517171.1:p.Ala242Thr | |
| XM_011518870.1:c.724G>A | XP_011517172.1:p.Ala242Thr | |
| XM_011518871.1:c.724G>A | XP_011517173.1:p.Ala242Thr | |
| XM_011518872.1:c.724G>A | XP_011517174.1:p.Ala242Thr | |
| XM_011518873.1:c.337G>A | XP_011517175.1:p.Ala113Thr | |
| XM_011518874.1:c.1177G>A | XP_011517176.1:p.Ala393Thr | |
| NM_000264.4:c.1177G>A | NP_000255.2:p.Ala393Thr | |
| NM_001083602.2:c.979G>A | NP_001077071.1:p.Ala327Thr | |
| NM_001083603.2:c.1174G>A | NP_001077072.1:p.Ala392Thr | |
| NM_001083604.2:c.724G>A | NP_001077073.1:p.Ala242Thr | |
| NM_001083605.2:c.724G>A | NP_001077074.1:p.Ala242Thr | |
| NM_001083606.2:c.724G>A | NP_001077075.1:p.Ala242Thr | |
| NM_001083607.2:c.724G>A | NP_001077076.1:p.Ala242Thr | |
| NM_001354918.1:c.1177G>A | NP_001341847.1:p.Ala393Thr | |
| NR_149061.1:n.1365G>A | ||
| NM_000264.5:c.1177G>A MANE Select | NP_000255.2:p.Ala393Thr | |
| NM_001083606.3:c.724G>A | NP_001077075.1:p.Ala242Thr | |
| NM_001354918.2:c.1177G>A | NP_001341847.1:p.Ala393Thr | |
| NR_149061.2:n.2082G>A | ||
| NM_001083602.3:c.979G>A | NP_001077071.1:p.Ala327Thr | |
| NM_001083603.3:c.1174G>A MANE Plus Clinical | NP_001077072.1:p.Ala392Thr | |
| NM_001083604.3:c.724G>A | NP_001077073.1:p.Ala242Thr | |
| NM_001083605.3:c.724G>A | NP_001077074.1:p.Ala242Thr | |
| NM_001083607.3:c.724G>A | NP_001077076.1:p.Ala242Thr |