Linked Data
ClinVar Variation Id:
2868097
ClinVar RCV Id:
RCV003703144
dbSNP Id:
rs1043654582
gnomAD v3:
17-75727387-C-G
gnomAD v4:
17-75727387-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75727387C>G , CM000679.2:g.75727387C>G | GRCh38 |
| NC_000017.10:g.73723468C>G , CM000679.1:g.73723468C>G | GRCh37 |
| NC_000017.9:g.71235063C>G | NCBI36 |
| NG_007372.1:g.10953C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449880.7:c.163-17C>G | ENSP00000400217.2:n.163-17C>G | |
| ENST00000200181.8:c.163-17C>G MANE Select | ENSP00000200181.3:n.163-17C>G | |
| ENST00000200181.7:c.163-17C>G | ENSP00000200181.3:n.163-17C>G | |
| ENST00000449880.6:c.163-17C>G | ENSP00000400217.2:n.163-17C>G | |
| ENST00000450894.7:c.163-17C>G | ENSP00000405536.3:n.163-17C>G | |
| ENST00000579662.5:c.163-17C>G | ENSP00000463651.1:n.163-17C>G | |
| ENST00000580542.5:n.228-17C>G | ||
| ENST00000584558.5:n.163-17C>G | ||
| NM_000213.3:c.163-17C>G | NP_000204.3:n.163-17C>G | |
| NM_001005619.1:c.163-17C>G | NP_001005619.1:n.163-17C>G | |
| NM_001005731.1:c.163-17C>G | NP_001005731.1:n.163-17C>G | |
| XM_005257309.2:c.163-17C>G | XP_005257366.1:n.163-17C>G | |
| XM_005257311.3:c.163-17C>G | XP_005257368.1:n.163-17C>G | |
| XM_005257312.2:c.163-17C>G | XP_005257369.1:n.163-17C>G | |
| XM_006721866.2:c.268-17C>G | XP_006721929.1:n.268-17C>G | |
| XM_006721867.2:c.268-17C>G | XP_006721930.1:n.268-17C>G | |
| XM_006721868.2:c.268-17C>G | XP_006721931.1:n.268-17C>G | |
| XM_006721870.2:c.268-17C>G | XP_006721933.1:n.268-17C>G | |
| XM_011524751.1:c.268-17C>G | XP_011523053.1:n.268-17C>G | |
| NM_000213.4:c.163-17C>G | NP_000204.3:n.163-17C>G | |
| NM_001005731.2:c.163-17C>G | NP_001005731.1:n.163-17C>G | |
| NM_001321123.1:c.163-17C>G | NP_001308052.1:n.163-17C>G | |
| XM_005257311.4:c.163-17C>G | XP_005257368.1:n.163-17C>G | |
| XM_006721866.3:c.268-17C>G | XP_006721929.1:n.268-17C>G | |
| XM_006721867.3:c.268-17C>G | XP_006721930.1:n.268-17C>G | |
| XM_006721868.3:c.268-17C>G | XP_006721931.1:n.268-17C>G | |
| XM_006721870.3:c.268-17C>G | XP_006721933.1:n.268-17C>G | |
| XM_011524751.2:c.268-17C>G | XP_011523053.1:n.268-17C>G | |
| NM_000213.5:c.163-17C>G MANE Select | NP_000204.3:n.163-17C>G | |
| NM_001005731.3:c.163-17C>G | NP_001005731.1:n.163-17C>G | |
| NM_001321123.2:c.163-17C>G | NP_001308052.1:n.163-17C>G |