Linked Data
dbSNP Id:
rs1595064
gnomAD v2:
2-212242745-G-C
gnomAD v3:
2-211378020-G-C
gnomAD v4:
2-211378020-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.211378020G>C , CM000664.2:g.211378020G>C | GRCh38 |
| NC_000002.11:g.212242745G>C , CM000664.1:g.212242745G>C | GRCh37 |
| NC_000002.10:g.211950990G>C | NCBI36 |
| NG_011805.1:g.1165608C>G | |
| NG_011805.2:g.1165609C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342788.9:c.*5595C>G MANE Select | ENSP00000342235.4:n.*5595C>G | |
| ENST00000402597.6:c.9396C>G | ENSP00000385565.3:n.9396C>G | |
| ENST00000342788.8:c.*5595C>G | ENSP00000342235.4:n.*5595C>G | |
| ENST00000402597.5:c.*5595C>G | ENSP00000385565.2:n.*5595C>G | |
| ENST00000436443.5:c.*5595C>G | ENSP00000403204.1:n.*5595C>G | |
| NM_001042599.1:c.*5595C>G | NP_001036064.1:n.*5595C>G | |
| NM_005235.2:c.*5595C>G | NP_005226.1:n.*5595C>G | |
| XM_005246375.1:c.*5595C>G | XP_005246432.1:n.*5595C>G | |
| XM_005246376.1:c.*5595C>G | XP_005246433.1:n.*5595C>G | |
| XM_005246377.1:c.*5595C>G | XP_005246434.1:n.*5595C>G | |
| XM_006712364.1:c.*5595C>G | XP_006712427.1:n.*5595C>G | |
| XM_005246376.3:c.*5595C>G | XP_005246433.1:n.*5595C>G | |
| XM_005246377.3:c.*5595C>G | XP_005246434.1:n.*5595C>G | |
| XM_006712364.3:c.*5595C>G | XP_006712427.1:n.*5595C>G | |
| XM_017003577.2:c.*5595C>G | XP_016859066.1:n.*5595C>G | |
| XM_017003578.2:c.*5595C>G | XP_016859067.1:n.*5595C>G | |
| XM_017003579.2:c.*5595C>G | XP_016859068.1:n.*5595C>G | |
| XM_017003580.2:c.*5595C>G | XP_016859069.1:n.*5595C>G | |
| XM_017003581.2:c.*5595C>G | XP_016859070.1:n.*5595C>G | |
| XM_017003582.1:c.*5595C>G | XP_016859071.1:n.*5595C>G | |
| NM_005235.3:c.*5595C>G MANE Select | NP_005226.1:n.*5595C>G |