Linked Data
ClinVar Variation Id:
2830834
dbSNP Id:
rs760713161
ExAC:
2:215884446 C / A
gnomAD v2:
2-215884446-C-A
gnomAD v4:
2-215019722-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215019722C>A , CM000664.2:g.215019722C>A | GRCh38 |
| NC_000002.11:g.215884446C>A , CM000664.1:g.215884446C>A | GRCh37 |
| NC_000002.10:g.215592691C>A | NCBI36 |
| NG_007074.1:g.123706G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.1362G>T MANE Select | ENSP00000272895.7:p.Gln454His | |
| ENST00000272895.11:c.1362G>T | ENSP00000272895.7:p.Gln454His | |
| ENST00000389661.4:c.408G>T | ENSP00000374312.4:p.Gln136His | |
| NM_015657.3:c.408G>T | NP_056472.2:p.Gln136His | |
| NM_173076.2:c.1362G>T | NP_775099.2:p.Gln454His | |
| NR_103740.1:n.1606G>T | ||
| XM_011510951.1:c.1362G>T | XP_011509253.1:p.Gln454His | |
| XM_011510952.1:c.1362G>T | XP_011509254.1:p.Gln454His | |
| XM_011510951.2:c.1362G>T | XP_011509253.1:p.Gln454His | |
| NM_173076.3:c.1362G>T MANE Select | NP_775099.2:p.Gln454His | |
| NR_103740.2:n.1804G>T | ||
| NM_015657.4:c.408G>T | NP_056472.2:p.Gln136His |