Linked Data
ClinVar Variation Id:
2917990
ClinVar RCV Id:
RCV003737906
dbSNP Id:
rs370910772
ExAC:
12:6979511 G / A
gnomAD v2:
12-6979511-G-A
gnomAD v3:
12-6870347-G-A
gnomAD v4:
12-6870347-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6870347G>A , CM000674.2:g.6870347G>A | GRCh38 |
| NC_000012.11:g.6979511G>A , CM000674.1:g.6979511G>A | GRCh37 |
| NC_000012.10:g.6849772G>A | NCBI36 |
| NG_011948.1:g.7928G>A | |
| NG_013308.1:g.8011C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396705.10:c.714G>A MANE Select | ENSP00000379933.4:p.Lys238= | |
| ENST00000229270.8:c.825G>A | ENSP00000229270.4:p.Lys275= | |
| ENST00000396705.9:c.714G>A | ENSP00000379933.4:p.Lys238= | |
| ENST00000474253.1:n.203G>A | ||
| ENST00000488464.6:c.468G>A | ENSP00000475620.1:p.Lys156= | |
| ENST00000535434.5:c.468G>A | ENSP00000443599.1:p.Lys156= | |
| ENST00000613953.4:c.825G>A | ENSP00000484435.1:p.Lys275= | |
| NM_000365.5:c.714G>A | NP_000356.1:p.Lys238= | |
| NM_001159287.1:c.825G>A | NP_001152759.1:p.Lys275= | |
| NM_001258026.1:c.468G>A | NP_001244955.1:p.Lys156= | |
| XR_002957378.1:n.1722G>A | ||
| NM_000365.6:c.714G>A MANE Select | NP_000356.1:p.Lys238= | |
| NM_001258026.2:c.468G>A | NP_001244955.1:p.Lys156= |