Linked Data
dbSNP Id:
rs761554882
ExAC:
6:32150024 C / T
gnomAD v2:
6-32150024-C-T
gnomAD v3:
6-32182247-C-T
gnomAD v4:
6-32182247-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32182247C>T , CM000668.2:g.32182247C>T | GRCh38 |
| NC_000006.11:g.32150024C>T , CM000668.1:g.32150024C>T | GRCh37 |
| NC_000006.10:g.32258002C>T | NCBI36 |
| NG_029868.1:g.7076G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375076.9:c.964G>A MANE Select | ENSP00000364217.4:p.Glu322Lys | |
| ENST00000375055.6:c.964G>A | ENSP00000364195.2:p.Glu322Lys | |
| ENST00000375065.6:c.151G>A | ENSP00000364206.6:p.Glu51Lys | |
| ENST00000375067.7:c.809+292G>A | ENSP00000364208.3:n.809+292G>A | |
| ENST00000375069.7:c.1012G>A | ENSP00000364210.4:p.Glu338Lys | |
| ENST00000375070.7:c.661G>A | ENSP00000364211.4:p.Gly221Ser | |
| ENST00000375076.8:c.964G>A | ENSP00000364217.4:p.Glu322Lys | |
| ENST00000438221.6:c.1012G>A | ENSP00000387887.2:p.Glu338Lys | |
| ENST00000473619.5:n.506G>A | ||
| ENST00000484849.5:n.1171G>A | ||
| ENST00000488669.5:n.506G>A | ||
| ENST00000620802.4:c.283-814G>A | ENSP00000484081.1:n.283-814G>A | |
| NM_001136.4:c.964G>A | NP_001127.1:p.Glu322Lys | |
| NM_001206929.1:c.1012G>A | NP_001193858.1:p.Glu338Lys | |
| NM_001206932.1:c.922G>A | NP_001193861.1:p.Glu308Lys | |
| NM_001206934.1:c.1012G>A | NP_001193863.1:p.Glu338Lys | |
| NM_001206936.1:c.912G>A | NP_001193865.1:p.Ser304= | |
| NM_001206940.1:c.964G>A | NP_001193869.1:p.Glu322Lys | |
| NM_001206954.1:c.822+321G>A | NP_001193883.1:n.822+321G>A | |
| NM_001206966.1:c.964G>A | NP_001193895.1:p.Glu322Lys | |
| NM_172197.2:c.809+292G>A | NP_751947.1:n.809+292G>A | |
| NR_038190.1:n.1247G>A | ||
| XM_017010328.2:c.963+321G>A | XP_016865817.1:n.963+321G>A | |
| XR_001743189.2:n.1028+321G>A | ||
| XR_001743190.2:n.980+321G>A | ||
| NM_001136.5:c.964G>A MANE Select | NP_001127.1:p.Glu322Lys | |
| NM_001206932.2:c.922G>A | NP_001193861.1:p.Glu308Lys | |
| NM_001206936.2:c.912G>A | NP_001193865.1:p.Ser304= | |
| NM_001206940.2:c.964G>A | NP_001193869.1:p.Glu322Lys | |
| NM_001206954.2:c.822+321G>A | NP_001193883.1:n.822+321G>A | |
| NM_001206966.2:c.964G>A | NP_001193895.1:p.Glu322Lys | |
| NM_172197.3:c.809+292G>A | NP_751947.1:n.809+292G>A | |
| NR_038190.2:n.1178G>A | ||
| NM_001206929.2:c.1012G>A | NP_001193858.1:p.Glu338Lys | |
| NM_001206934.2:c.1012G>A | NP_001193863.1:p.Glu338Lys |