Linked Data
ClinVar Variation Id:
128842
dbSNP Id:
rs34272112
ExAC:
3:148891521 T / C
gnomAD v2:
3-148891521-T-C
gnomAD v3:
3-149173734-T-C
gnomAD v4:
3-149173734-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149173734T>C , CM000665.2:g.149173734T>C | GRCh38 |
| NC_000003.11:g.148891521T>C , CM000665.1:g.148891521T>C | GRCh37 |
| NC_000003.10:g.150374211T>C | NCBI36 |
| NG_009847.1:g.49151T>C | |
| NG_011800.1:g.53312A>G | |
| NG_011800.2:g.53312A>G | |
| NG_011800.3:g.53312A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264613.11:c.3182-4A>G MANE Select | ENSP00000264613.6:n.3182-4A>G | |
| ENST00000264613.10:c.3182-4A>G | ENSP00000264613.6:n.3182-4A>G | |
| ENST00000460674.5:n.1038-4A>G | ||
| ENST00000474204.1:n.466-4A>G | ||
| ENST00000479771.5:c.586+2516A>G | ENSP00000420367.1:n.586+2516A>G | |
| ENST00000481169.5:c.2805+4106A>G | ENSP00000418773.1:n.2805+4106A>G | |
| ENST00000494544.1:c.2543-4A>G | ENSP00000420545.1:n.2543-4A>G | |
| NM_000096.3:c.3182-4A>G | NP_000087.1:n.3182-4A>G | |
| NR_046371.1:n.3058+4106A>G | ||
| XM_006713499.2:c.3181+2516A>G | XP_006713562.1:n.3181+2516A>G | |
| XM_006713500.2:c.3194-4A>G | XP_006713563.1:n.3194-4A>G | |
| XM_011512435.1:c.3193+2504A>G | XP_011510737.1:n.3193+2504A>G | |
| XR_427361.2:n.3276+4106A>G | ||
| XM_006713499.3:c.3181+2516A>G | XP_006713562.1:n.3181+2516A>G | |
| XM_006713500.4:c.3194-4A>G | XP_006713563.1:n.3194-4A>G | |
| XM_011512435.2:c.3193+2504A>G | XP_011510737.1:n.3193+2504A>G | |
| XM_017005735.2:c.3019-4A>G | XP_016861224.1:n.3019-4A>G | |
| XR_427361.3:n.3234+4106A>G | ||
| NM_000096.4:c.3182-4A>G MANE Select | NP_000087.2:n.3182-4A>G | |
| NR_046371.2:n.2842+4106A>G |