Linked Data
ClinVar Variation Id:
376880
ClinVar RCV Id:
RCV000417723
dbSNP Id:
rs1057520080
gnomAD v4:
5-90853314-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90853314T>G , CM000667.2:g.90853314T>G | GRCh38 |
| NC_000005.9:g.90149131T>G , CM000667.1:g.90149131T>G | GRCh37 |
| NC_000005.8:g.90184887T>G | NCBI36 |
| NG_007083.1:g.299515T>G | |
| NG_007083.2:g.328971T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.17235T>G MANE Select | ENSP00000384582.2:p.Tyr5745Ter | |
| ENST00000425867.3:c.6189T>G | ENSP00000392618.3:p.Tyr2063Ter | |
| ENST00000505845.2:n.426T>G | ||
| ENST00000638510.1:n.4502T>G | ||
| ENST00000638990.1:c.447T>G | ||
| ENST00000639431.1:c.266-132030T>G | ENSP00000491057.1:n.266-132030T>G | |
| ENST00000640407.1:c.3684T>G | ENSP00000491425.1:n.3684T>G | |
| ENST00000405460.6:c.17235T>G | ENSP00000384582.2:p.Tyr5745Ter | |
| ENST00000425867.2:c.4218T>G | ENSP00000392618.2:p.Tyr1406Ter | |
| NM_032119.3:c.17235T>G | NP_115495.3:p.Tyr5745Ter | |
| NR_003149.1:n.17248T>G | ||
| XM_011543675.1:c.17232T>G | XP_011541977.1:p.Tyr5744Ter | |
| XM_011543676.1:c.17154T>G | XP_011541978.1:p.Tyr5718Ter | |
| XM_011543677.1:c.14538T>G | XP_011541979.1:p.Tyr4846Ter | |
| NM_032119.4:c.17235T>G MANE Select | NP_115495.3:p.Tyr5745Ter | |
| XM_017009963.2:c.17256T>G | XP_016865452.1:p.Tyr5752Ter | |
| XM_017009964.2:c.17253T>G | XP_016865453.1:p.Tyr5751Ter | |
| XM_017009965.1:c.17253T>G | XP_016865454.1:p.Tyr5751Ter | |
| XM_017009966.2:c.17175T>G | XP_016865455.1:p.Tyr5725Ter | |
| XM_017009967.1:c.17160T>G | XP_016865456.1:p.Tyr5720Ter | |
| XM_017009968.2:c.17076T>G | XP_016865457.1:p.Tyr5692Ter | |
| XM_017009969.2:c.17256T>G | XP_016865458.1:p.Tyr5752Ter | |
| XM_017009972.1:c.10374T>G | XP_016865461.1:p.Tyr3458Ter | |
| XM_017009973.1:c.10353T>G | XP_016865462.1:p.Tyr3451Ter | |
| NR_003149.2:n.17251T>G |