Linked Data
ClinVar Variation Id:
258504
dbSNP Id:
rs5998
ExAC:
1:197009798 A / G
gnomAD v2:
1-197009798-A-G
gnomAD v3:
1-197040668-A-G
gnomAD v4:
1-197040668-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197040668A>G , CM000663.2:g.197040668A>G | GRCh38 |
| NC_000001.10:g.197009798A>G , CM000663.1:g.197009798A>G | GRCh37 |
| NC_000001.9:g.195276421A>G | NCBI36 |
| NG_012065.1:g.31600T>C , LRG_550:g.31600T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367412.2:c.1806T>C MANE Select | ENSP00000356382.2:p.Asn602= | |
| ENST00000649282.1:c.561T>C | ENSP00000497116.1:p.Asn187= | |
| ENST00000367412.1:c.1806T>C | ENSP00000356382.1:p.Asn602= | |
| ENST00000490002.1:n.217T>C | ||
| NM_001994.2:c.1806T>C , LRG_550t1:c.1806T>C | NP_001985.2:p.Asn602= | |
| XM_011509283.1:c.1806T>C | XP_011507585.1:p.Asn602= | |
| XM_011509284.1:c.1803T>C | XP_011507586.1:p.Asn601= | |
| XM_011509285.1:c.1710T>C | XP_011507587.1:p.Asn570= | |
| XM_011509286.1:c.1662T>C | XP_011507588.1:p.Asn554= | |
| XM_011509283.2:c.1806T>C | XP_011507585.1:p.Asn602= | |
| XM_011509284.2:c.1803T>C | XP_011507586.1:p.Asn601= | |
| XM_011509286.2:c.1662T>C | XP_011507588.1:p.Asn554= | |
| NM_001994.3:c.1806T>C MANE Select | NP_001985.2:p.Asn602= |