Linked Data
ClinVar Variation Id:
1387218
ClinVar RCV Id:
RCV001905982
dbSNP Id:
rs1553753183
gnomAD v4:
1-145912195-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145912195G>T , CM000663.2:g.145912195G>T | GRCh38 |
| NC_000001.10:g.145522885C>A , CM000663.1:g.145522885C>A | GRCh37 |
| NC_000001.9:g.144234242C>A | NCBI36 |
| NG_033000.3:g.11730C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369306.8:c.746C>A MANE Select | ENSP00000358312.3:p.Thr249Asn | |
| ENST00000369306.7:c.746C>A | ENSP00000358312.3:p.Thr249Asn | |
| ENST00000428634.1:c.212C>A | ENSP00000414018.1:p.Thr71Asn | |
| ENST00000537888.1:c.704C>A | ENSP00000437510.1:p.Thr235Asn | |
| NM_001184795.1:c.704C>A | NP_001171724.1:p.Thr235Asn | |
| NM_003846.2:c.746C>A | NP_003837.1:p.Thr249Asn | |
| NR_073491.1:n.978C>A | ||
| NR_073492.1:n.972C>A | ||
| NR_073493.2:n.1194C>A | ||
| NM_003846.3:c.746C>A MANE Select | NP_003837.1:p.Thr249Asn | |
| NR_073491.2:n.771C>A | ||
| NR_073492.2:n.765C>A |