Linked Data
dbSNP Id:
rs745523977
ExAC:
22:19883099 C / T
gnomAD v2:
22-19883099-C-T
gnomAD v4:
22-19895576-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19895576C>T , CM000684.2:g.19895576C>T | GRCh38 |
| NC_000022.10:g.19883099C>T , CM000684.1:g.19883099C>T | GRCh37 |
| NC_000022.9:g.18263099C>T | NCBI36 |
| NG_011835.1:g.51261G>A , LRG_417:g.51261G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.780G>A MANE Select | ENSP00000383365.1:p.Met260Ile | |
| ENST00000334363.14:c.780G>A | ENSP00000334451.9:p.Met260Ile | |
| ENST00000400518.5:c.690G>A | ENSP00000383362.1:p.Met230Ile | |
| ENST00000400519.6:c.777G>A | ENSP00000383363.1:p.Met259Ile | |
| ENST00000400521.6:c.780G>A | ENSP00000383365.1:p.Met260Ile | |
| ENST00000400525.6:c.711G>A | ENSP00000383369.3:p.Met237Ile | |
| ENST00000474308.5:c.723G>A | ENSP00000485665.1:p.Met241Ile | |
| ENST00000475995.3:c.277G>A | ||
| ENST00000491939.6:c.684G>A | ENSP00000485543.1:p.Met228Ile | |
| ENST00000494454.5:n.854G>A | ||
| ENST00000542719.6:c.492G>A | ENSP00000485128.2:p.Met164Ile | |
| ENST00000634537.1:c.9G>A | ENSP00000489208.1:p.Met3Ile | |
| ENST00000635155.1:n.366G>A | ||
| NM_001282512.1:c.780G>A | NP_001269441.1:p.Met260Ile | |
| NM_006440.4:c.780G>A | NP_006431.2:p.Met260Ile | |
| NM_001282512.2:c.780G>A | NP_001269441.1:p.Met260Ile | |
| NM_001352300.1:c.777G>A | NP_001339229.1:p.Met259Ile | |
| NM_001352301.1:c.690G>A | NP_001339230.1:p.Met230Ile | |
| NM_001352302.1:c.492G>A | NP_001339231.1:p.Met164Ile | |
| NM_001352303.1:c.684G>A | NP_001339232.1:p.Met228Ile | |
| NR_147957.1:n.912G>A | ||
| NM_006440.5:c.780G>A MANE Select | NP_006431.2:p.Met260Ile | |
| NM_001282512.3:c.780G>A | NP_001269441.1:p.Met260Ile | |
| NM_001352300.2:c.777G>A | NP_001339229.1:p.Met259Ile | |
| NR_147957.2:n.738G>A | ||
| NM_001352301.2:c.690G>A | NP_001339230.1:p.Met230Ile | |
| NM_001352302.2:c.492G>A | NP_001339231.1:p.Met164Ile | |
| NM_001352303.2:c.684G>A | NP_001339232.1:p.Met228Ile |