Linked Data
ClinVar Variation Id:
370642
ClinVar RCV Id:
RCV000410516
dbSNP Id:
rs1057516650
gnomAD v3:
17-50167945-A-G
gnomAD v4:
17-50167945-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50167945A>G , CM000679.2:g.50167945A>G | GRCh38 |
| NC_000017.10:g.48245306A>G , CM000679.1:g.48245306A>G | GRCh37 |
| NC_000017.9:g.45600305A>G | NCBI36 |
| NG_008889.1:g.6941A>G , LRG_203:g.6941A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504073.2:c.313-2A>G | ENSP00000422030.2:n.313-2A>G | |
| ENST00000511303.6:n.38-2A>G | ||
| ENST00000512526.2:c.304-2A>G | ENSP00000426606.2:n.304-2A>G | |
| ENST00000682109.1:c.193-2A>G | ENSP00000508041.1:n.193-2A>G | |
| ENST00000683226.1:n.23-2A>G | ||
| ENST00000683294.1:c.313-2A>G | ENSP00000508134.1:n.313-2A>G | |
| ENST00000262018.8:c.313-2A>G MANE Select | ENSP00000262018.3:n.313-2A>G | |
| ENST00000262018.7:c.313-2A>G | ENSP00000262018.3:n.313-2A>G | |
| ENST00000344627.10:c.313-2A>G | ENSP00000345522.6:n.313-2A>G | |
| ENST00000502555.5:c.158-2A>G | ENSP00000422817.1:n.158-2A>G | |
| ENST00000511303.5:c.34-2A>G | ENSP00000426104.1:n.34-2A>G | |
| ENST00000512526.1:c.148-2A>G | ||
| ENST00000513821.5:c.313-2A>G | ENSP00000426571.1:n.313-2A>G | |
| ENST00000513942.5:n.104-2A>G | ||
| ENST00000514934.1:c.*19-2A>G | ENSP00000423168.1:n.*19-2A>G | |
| NM_000023.2:c.313-2A>G , LRG_203t1:c.313-2A>G | NP_000014.1:n.313-2A>G | |
| NM_001135697.1:c.313-2A>G | NP_001129169.1:n.313-2A>G | |
| XM_011525120.1:c.313-2A>G | XP_011523422.1:n.313-2A>G | |
| XM_011525121.1:c.313-2A>G | XP_011523423.1:n.313-2A>G | |
| XM_011525122.1:c.313-2A>G | XP_011523424.1:n.313-2A>G | |
| XM_011525123.1:c.313-2A>G | XP_011523425.1:n.313-2A>G | |
| XM_011525124.1:c.7-2A>G | XP_011523426.1:n.7-2A>G | |
| XR_934517.1:n.379-2A>G | ||
| NM_000023.3:c.313-2A>G | NP_000014.1:n.313-2A>G | |
| NM_001135697.2:c.313-2A>G | NP_001129169.1:n.313-2A>G | |
| NR_135553.1:n.369-2A>G | ||
| XM_011525120.2:c.475-2A>G | XP_011523422.2:n.475-2A>G | |
| XM_011525121.2:c.475-2A>G | XP_011523423.2:n.475-2A>G | |
| XM_011525122.2:c.475-2A>G | XP_011523424.2:n.475-2A>G | |
| XM_011525123.2:c.475-2A>G | XP_011523425.2:n.475-2A>G | |
| XM_011525124.2:c.7-2A>G | XP_011523426.1:n.7-2A>G | |
| XM_024450873.1:c.7-2A>G | XP_024306641.1:n.7-2A>G | |
| XR_002958056.1:n.831-2A>G | ||
| NM_000023.4:c.313-2A>G MANE Select | NP_000014.1:n.313-2A>G | |
| NM_001135697.3:c.313-2A>G | NP_001129169.1:n.313-2A>G | |
| NR_135553.2:n.349-2A>G |