Linked Data
dbSNP Id:
rs1058170
gnomAD v2:
22-42523930-G-C
gnomAD v3:
22-42127928-G-C
gnomAD v4:
22-42127928-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42127928G>C , CM000684.2:g.42127928G>C | GRCh38 |
| NC_000022.10:g.42523930G>C , CM000684.1:g.42523930G>C | GRCh37 |
| NC_000022.9:g.40853874G>C | NCBI36 |
| NG_008376.3:g.7064C>G | |
| NG_008376.4:g.7883C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.697C>G | ENSP00000353241.6:p.Leu233Val | |
| ENST00000645361.2:c.899C>G MANE Select | ENSP00000496150.1:p.Ala300Gly | |
| ENST00000359033.4:c.746C>G | ENSP00000351927.4:p.Ala249Gly | |
| ENST00000360124.9:c.517C>G | ENSP00000353241.5:p.Leu173Val | |
| ENST00000360608.9:c.899C>G | ENSP00000353820.5:p.Ala300Gly | |
| ENST00000389970.7:c.833C>G | ENSP00000374620.4:p.Ala278Gly | |
| ENST00000488442.1:n.1623C>G | ||
| NM_000106.5:c.899C>G | NP_000097.3:p.Ala300Gly | |
| NM_001025161.2:c.746C>G | NP_001020332.2:p.Ala249Gly | |
| XM_011529966.1:c.899C>G | XP_011528268.1:p.Ala300Gly | |
| XM_011529967.1:c.899C>G | XP_011528269.1:p.Ala300Gly | |
| XM_011529968.1:c.899C>G | XP_011528270.1:p.Ala300Gly | |
| XM_011529969.1:c.755C>G | XP_011528271.1:p.Ala252Gly | |
| XM_011529970.1:c.746C>G | XP_011528272.1:p.Ala249Gly | |
| XM_011529971.1:c.755C>G | XP_011528273.1:p.Ala252Gly | |
| XM_011529972.1:c.843+246C>G | XP_011528274.1:n.843+246C>G | |
| NM_000106.6:c.899C>G MANE Select | NP_000097.3:p.Ala300Gly | |
| NM_001025161.3:c.746C>G | NP_001020332.2:p.Ala249Gly |