Linked Data
ClinVar Variation Id:
2656264
ClinVar RCV Id:
RCV003436532
dbSNP Id:
rs1397979403
gnomAD v3:
6-18143653-C-T
gnomAD v4:
6-18143653-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18143653C>T , CM000668.2:g.18143653C>T | GRCh38 |
| NC_000006.11:g.18143884C>T , CM000668.1:g.18143884C>T | GRCh37 |
| NC_000006.10:g.18251863C>T | NCBI36 |
| NG_012137.2:g.16491G>A | |
| NG_012137.3:g.16491G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309983.5:c.309G>A MANE Select | ENSP00000312304.4:p.Gln103= | |
| ENST00000309983.4:c.309G>A | ENSP00000312304.4:p.Gln103= | |
| NM_000367.3:c.309G>A | NP_000358.1:p.Gln103= | |
| XM_011514839.1:c.309G>A | XP_011513141.1:p.Gln103= | |
| XM_011514840.1:c.240G>A | XP_011513142.1:p.Gln80= | |
| NM_000367.4:c.309G>A | NP_000358.1:p.Gln103= | |
| NM_001346817.1:c.309G>A | NP_001333746.1:p.Gln103= | |
| NM_001346818.1:c.309G>A | NP_001333747.1:p.Gln103= | |
| NM_000367.5:c.309G>A MANE Select | NP_000358.1:p.Gln103= |