Linked Data
ClinVar Variation Id:
242239
ClinVar RCV Id:
RCV000501447
RCV001158196
RCV001158197
RCV001158198
RCV001668401
RCV002321896
RCV002518383
dbSNP Id:
rs200102606
ExAC:
5:1253909 C / T
gnomAD v2:
5-1253909-C-T
gnomAD v3:
5-1253794-C-T
gnomAD v4:
5-1253794-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1253794C>T , CM000667.2:g.1253794C>T | GRCh38 |
| NC_000005.9:g.1253909C>T , CM000667.1:g.1253909C>T | GRCh37 |
| NC_000005.8:g.1306909C>T | NCBI36 |
| NG_009265.1:g.46254G>A , LRG_343:g.46254G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.3333G>A MANE Select | ENSP00000309572.5:p.Thr1111= | |
| ENST00000656021.1:c.*2879G>A | ENSP00000499759.1:n.*2879G>A | |
| ENST00000310581.9:c.3333G>A | ENSP00000309572.5:p.Thr1111= | |
| ENST00000334602.10:c.3144G>A | ENSP00000334346.6:p.Thr1048= | |
| ENST00000460137.6:c.2926G>A | ENSP00000425003.1:n.2926G>A | |
| ENST00000484238.6:n.1775G>A | ||
| NM_001193376.1:c.3144G>A | NP_001180305.1:p.Thr1048= | |
| NM_198253.2:c.3333G>A , LRG_343t1:c.3333G>A | NP_937983.2:p.Thr1111= | |
| XM_011514104.1:c.1803G>A | XP_011512406.1:p.Thr601= | |
| XM_011514105.1:c.1689G>A | XP_011512407.1:p.Thr563= | |
| XM_011514106.1:c.1689G>A | XP_011512408.1:p.Thr563= | |
| XR_925683.1:n.287-880C>T | ||
| NR_149162.1:n.3020G>A | ||
| NR_149163.1:n.2984G>A | ||
| NM_001193376.2:c.3144G>A | NP_001180305.1:p.Thr1048= | |
| NM_198253.3:c.3333G>A MANE Select | NP_937983.2:p.Thr1111= | |
| NR_149162.2:n.3041G>A | ||
| NR_149163.2:n.3005G>A | ||
| NM_001193376.3:c.3144G>A | NP_001180305.1:p.Thr1048= | |
| NR_149162.3:n.3041G>A | ||
| NR_149163.3:n.3005G>A |