Linked Data
dbSNP Id:
rs2272127
gnomAD v2:
2-103039873-C-G
gnomAD v3:
2-102423413-C-G
gnomAD v4:
2-102423413-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.102423413C>G , CM000664.2:g.102423413C>G | GRCh38 |
| NC_000002.11:g.103039873C>G , CM000664.1:g.103039873C>G | GRCh37 |
| NC_000002.10:g.102406305C>G | NCBI36 |
| NG_011481.1:g.9620C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000687160.1:c.70+66C>G MANE Select | ENSP00000510345.1:n.70+66C>G | |
| ENST00000264260.6:c.70+66C>G | ENSP00000264260.2:n.70+66C>G | |
| ENST00000409369.1:c.-32+66C>G | ENSP00000387201.1:n.-32+66C>G | |
| ENST00000450855.1:c.70+66C>G | ENSP00000389815.1:n.70+66C>G | |
| ENST00000497795.1:n.192+66C>G | ||
| NM_003853.3:c.70+66C>G | NP_003844.1:n.70+66C>G | |
| XM_011512087.1:c.-32+66C>G | XP_011510389.1:n.-32+66C>G | |
| XM_011512089.1:c.70+66C>G | XP_011510391.1:n.70+66C>G | |
| XR_923052.1:n.407+66C>G | ||
| XM_011512087.2:c.-32+66C>G | XP_011510389.1:n.-32+66C>G | |
| XM_024453197.1:c.70+66C>G | XP_024308965.1:n.70+66C>G | |
| XM_024453198.1:c.70+66C>G | XP_024308966.1:n.70+66C>G | |
| XM_024453199.1:c.70+66C>G | XP_024308967.1:n.70+66C>G | |
| XM_024453200.1:c.70+66C>G | XP_024308968.1:n.70+66C>G | |
| XM_024453201.1:c.70+66C>G | XP_024308969.1:n.70+66C>G | |
| XR_001739011.2:n.405+66C>G | ||
| NM_001393486.1:c.70+66C>G | NP_001380415.1:n.70+66C>G | |
| NM_001393487.1:c.70+66C>G MANE Select | NP_001380416.1:n.70+66C>G | |
| NM_001393488.1:c.-452+66C>G | NP_001380417.1:n.-452+66C>G | |
| NM_001393489.1:c.-32+66C>G | NP_001380418.1:n.-32+66C>G | |
| NM_003853.4:c.70+66C>G | NP_003844.1:n.70+66C>G |