Linked Data
ClinVar Variation Id:
95520
dbSNP Id:
rs7135542
ExAC:
12:124229429 T / C
gnomAD v2:
12-124229429-T-C
gnomAD v3:
12-123744882-T-C
gnomAD v4:
12-123744882-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123744882T>C , CM000674.2:g.123744882T>C | GRCh38 |
| NC_000012.11:g.124229429T>C , CM000674.1:g.124229429T>C | GRCh37 |
| NC_000012.10:g.122795382T>C | NCBI36 |
| NG_012743.1:g.37565T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.1515T>C MANE Select | ENSP00000332247.2:p.Asn505= | |
| ENST00000540368.6:n.1546T>C | ||
| ENST00000674794.1:c.1603T>C | ||
| ENST00000675260.1:n.790T>C | ||
| ENST00000675344.1:c.*536T>C | ENSP00000501953.1:n.*536T>C | |
| ENST00000330342.7:c.1515T>C | ENSP00000332247.2:p.Asn505= | |
| ENST00000536426.1:n.532T>C | ||
| ENST00000545059.5:n.4151T>C | ||
| NM_012463.3:c.1515T>C | NP_036595.2:p.Asn505= | |
| XM_005253563.1:c.1515T>C | XP_005253620.1:p.Asn505= | |
| XM_006719317.2:c.1002T>C | XP_006719380.1:p.Asn334= | |
| XM_006719318.2:c.693T>C | XP_006719381.1:p.Asn231= | |
| XR_429088.1:n.1678T>C | ||
| XM_024448910.1:c.1515T>C | XP_024304678.1:p.Asn505= | |
| XM_024448911.1:c.1002T>C | XP_024304679.1:p.Asn334= | |
| XM_024448912.1:c.693T>C | XP_024304680.1:p.Asn231= | |
| NM_012463.4:c.1515T>C MANE Select | NP_036595.2:p.Asn505= |