Linked Data
ClinVar Variation Id:
1959212
ClinVar RCV Id:
RCV002710145
dbSNP Id:
rs745348393
ExAC:
6:7580077 G / C
gnomAD v2:
6-7580077-G-C
gnomAD v3:
6-7579844-G-C
gnomAD v4:
6-7579844-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7579844G>C , CM000668.2:g.7579844G>C | GRCh38 |
| NC_000006.11:g.7580077G>C , CM000668.1:g.7580077G>C | GRCh37 |
| NC_000006.10:g.7525076G>C | NCBI36 |
| NG_008803.1:g.43208G>C , LRG_423:g.43208G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.3654G>C | ENSP00000518230.1:p.Lys1218Asn | |
| ENST00000379802.8:c.3654G>C MANE Select | ENSP00000369129.3:p.Lys1218Asn | |
| ENST00000379802.7:c.3654G>C | ENSP00000369129.3:p.Lys1218Asn | |
| ENST00000418664.2:c.3582+72G>C | ENSP00000396591.2:n.3582+72G>C | |
| NM_001008844.1:c.3582+72G>C | NP_001008844.1:n.3582+72G>C | |
| NM_004415.2:c.3654G>C , LRG_423t1:c.3654G>C | NP_004406.2:p.Lys1218Asn | |
| XM_011514323.1:c.3654G>C | XP_011512625.1:p.Lys1218Asn | |
| NM_001008844.2:c.3582+72G>C | NP_001008844.1:n.3582+72G>C | |
| NM_001319034.1:c.3654G>C | NP_001305963.1:p.Lys1218Asn | |
| NM_004415.3:c.3654G>C | NP_004406.2:p.Lys1218Asn | |
| NM_004415.4:c.3654G>C MANE Select | NP_004406.2:p.Lys1218Asn | |
| NM_001008844.3:c.3582+72G>C | NP_001008844.1:n.3582+72G>C | |
| NM_001319034.2:c.3654G>C | NP_001305963.1:p.Lys1218Asn |