Linked Data
ClinVar Variation Id:
758230
ClinVar RCV Id:
RCV000935921
dbSNP Id:
rs1135052
ExAC:
6:70980032 G / A
gnomAD v2:
6-70980032-G-A
gnomAD v3:
6-70270329-G-A
gnomAD v4:
6-70270329-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.70270329G>A , CM000668.2:g.70270329G>A | GRCh38 |
| NC_000006.11:g.70980032G>A , CM000668.1:g.70980032G>A | GRCh37 |
| NC_000006.10:g.71036753G>A | NCBI36 |
| NG_011654.1:g.37755C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683980.2:c.453C>T | ENSP00000506990.1:p.Gly151= | |
| ENST00000683602.1:n.1919C>T | ||
| ENST00000683758.1:c.453C>T | ENSP00000508147.1:p.Gly151= | |
| ENST00000683980.1:c.453C>T | ENSP00000506990.1:p.Gly151= | |
| ENST00000684176.1:n.524C>T | ||
| ENST00000320755.12:c.453C>T | ENSP00000315252.7:p.Gly151= | |
| ENST00000357250.11:c.1182C>T MANE Select | ENSP00000349790.6:p.Gly394= | |
| ENST00000644493.1:c.*219C>T | ENSP00000495638.1:n.*219C>T | |
| ENST00000320755.11:c.453C>T | ENSP00000315252.7:p.Gly151= | |
| ENST00000357250.10:c.1182C>T | ENSP00000349790.6:p.Gly394= | |
| ENST00000489611.5:n.290-664C>T | ||
| NM_001851.4:c.1182C>T | NP_001842.3:p.Gly394= | |
| NM_078485.3:c.453C>T | NP_511040.2:p.Gly151= | |
| XM_011535429.1:c.1182C>T | XP_011533731.1:p.Gly394= | |
| XM_011535430.1:c.453C>T | XP_011533732.1:p.Gly151= | |
| XM_011535429.3:c.1182C>T | XP_011533731.1:p.Gly394= | |
| XM_011535430.3:c.453C>T | XP_011533732.1:p.Gly151= | |
| XM_017010246.2:c.633C>T | XP_016865735.1:p.Gly211= | |
| XM_017010247.2:c.-100C>T | XP_016865736.1:n.-100C>T | |
| NM_001377289.1:c.453C>T | NP_001364218.1:p.Gly151= | |
| NM_001377290.1:c.453C>T | NP_001364219.1:p.Gly151= | |
| NM_001851.5:c.1182C>T | NP_001842.3:p.Gly394= | |
| NM_078485.4:c.453C>T | NP_511040.2:p.Gly151= | |
| NR_165185.1:n.703C>T | ||
| NM_001851.6:c.1182C>T MANE Select | NP_001842.3:p.Gly394= |