Linked Data
ClinVar Variation Id:
2530862
ClinVar RCV Id:
RCV003275585
dbSNP Id:
rs767781109
ExAC:
5:150639407 T / C
gnomAD v2:
5-150639407-T-C
gnomAD v3:
5-151259846-T-C
gnomAD v4:
5-151259846-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151259846T>C , CM000667.2:g.151259846T>C | GRCh38 |
| NC_000005.9:g.150639407T>C , CM000667.1:g.150639407T>C | GRCh37 |
| NC_000005.8:g.150619600T>C | NCBI36 |
| NG_009059.1:g.11795T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357164.4:c.173T>C MANE Select | ENSP00000349687.3:p.Ile58Thr | |
| ENST00000357164.3:c.173T>C | ENSP00000349687.3:p.Ile58Thr | |
| ENST00000523004.1:c.48T>C | ||
| ENST00000523466.5:c.218T>C | ENSP00000429100.1:p.Ile73Thr | |
| NM_000405.4:c.173T>C | NP_000396.2:p.Ile58Thr | |
| NM_001167607.1:c.173T>C | NP_001161079.1:p.Ile58Thr | |
| NM_000405.5:c.173T>C MANE Select | NP_000396.2:p.Ile58Thr | |
| NM_001167607.2:c.173T>C | NP_001161079.1:p.Ile58Thr | |
| NM_001167607.3:c.173T>C | NP_001161079.1:p.Ile58Thr |