Linked Data
dbSNP Id:
rs1280365414
gnomAD v2:
22-19883092-T-C
gnomAD v3:
22-19895569-T-C
gnomAD v4:
22-19895569-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19895569T>C , CM000684.2:g.19895569T>C | GRCh38 |
| NC_000022.10:g.19883092T>C , CM000684.1:g.19883092T>C | GRCh37 |
| NC_000022.9:g.18263092T>C | NCBI36 |
| NG_011835.1:g.51268A>G , LRG_417:g.51268A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.787A>G MANE Select | ENSP00000383365.1:p.Met263Val | |
| ENST00000334363.14:c.787A>G | ENSP00000334451.9:p.Met263Val | |
| ENST00000400518.5:c.697A>G | ENSP00000383362.1:p.Met233Val | |
| ENST00000400519.6:c.784A>G | ENSP00000383363.1:p.Met262Val | |
| ENST00000400521.6:c.787A>G | ENSP00000383365.1:p.Met263Val | |
| ENST00000400525.6:c.718A>G | ENSP00000383369.3:p.Met240Val | |
| ENST00000474308.5:c.730A>G | ENSP00000485665.1:p.Met244Val | |
| ENST00000475995.3:c.284A>G | ||
| ENST00000491939.6:c.691A>G | ENSP00000485543.1:p.Met231Val | |
| ENST00000494454.5:n.861A>G | ||
| ENST00000542719.6:c.499A>G | ENSP00000485128.2:p.Met167Val | |
| ENST00000634537.1:c.16A>G | ENSP00000489208.1:p.Met6Val | |
| ENST00000635155.1:n.373A>G | ||
| NM_001282512.1:c.787A>G | NP_001269441.1:p.Met263Val | |
| NM_006440.4:c.787A>G | NP_006431.2:p.Met263Val | |
| NM_001282512.2:c.787A>G | NP_001269441.1:p.Met263Val | |
| NM_001352300.1:c.784A>G | NP_001339229.1:p.Met262Val | |
| NM_001352301.1:c.697A>G | NP_001339230.1:p.Met233Val | |
| NM_001352302.1:c.499A>G | NP_001339231.1:p.Met167Val | |
| NM_001352303.1:c.691A>G | NP_001339232.1:p.Met231Val | |
| NR_147957.1:n.919A>G | ||
| NM_006440.5:c.787A>G MANE Select | NP_006431.2:p.Met263Val | |
| NM_001282512.3:c.787A>G | NP_001269441.1:p.Met263Val | |
| NM_001352300.2:c.784A>G | NP_001339229.1:p.Met262Val | |
| NR_147957.2:n.745A>G | ||
| NM_001352301.2:c.697A>G | NP_001339230.1:p.Met233Val | |
| NM_001352302.2:c.499A>G | NP_001339231.1:p.Met167Val | |
| NM_001352303.2:c.691A>G | NP_001339232.1:p.Met231Val |