Linked Data
dbSNP Id:
rs754216946
gnomAD v2:
3-182760082-T-C
gnomAD v3:
3-183042294-T-C
gnomAD v4:
3-183042294-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183042294T>C , CM000665.2:g.183042294T>C | GRCh38 |
| NC_000003.11:g.182760082T>C , CM000665.1:g.182760082T>C | GRCh37 |
| NC_000003.10:g.184242776T>C | NCBI36 |
| NG_008100.1:g.62284A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265594.9:c.1084-544A>G MANE Select | ENSP00000265594.4:n.1084-544A>G | |
| ENST00000265594.8:c.1084-544A>G | ENSP00000265594.4:n.1084-544A>G | |
| ENST00000476176.5:c.943-544A>G | ENSP00000420433.1:n.943-544A>G | |
| ENST00000492597.5:c.757-544A>G | ENSP00000419898.1:n.757-544A>G | |
| ENST00000495767.5:c.*665-544A>G | ENSP00000419658.1:n.*665-544A>G | |
| ENST00000497830.5:c.*681-544A>G | ENSP00000420088.1:n.*681-544A>G | |
| ENST00000497959.5:c.970-544A>G | ENSP00000420648.1:n.970-544A>G | |
| ENST00000539926.5:c.634-544A>G | ENSP00000441253.2:n.634-544A>G | |
| ENST00000610757.4:c.634-544A>G | ENSP00000480435.1:n.634-544A>G | |
| ENST00000629669.2:c.970-544A>G | ENSP00000486824.1:n.970-544A>G | |
| NM_001293273.1:c.733-544A>G | NP_001280202.1:n.733-544A>G | |
| NM_020166.4:c.1084-544A>G | NP_064551.3:n.1084-544A>G | |
| NR_120639.1:n.998-544A>G | ||
| NR_120640.1:n.1751-544A>G | ||
| XM_006713702.1:c.757-544A>G | XP_006713765.1:n.757-544A>G | |
| XM_011512992.1:c.970-544A>G | XP_011511294.1:n.970-544A>G | |
| XM_011512993.1:c.1084-544A>G | XP_011511295.1:n.1084-544A>G | |
| XR_241502.2:n.1231-544A>G | ||
| XR_924159.1:n.1231-544A>G | ||
| NM_001363880.1:c.757-544A>G | NP_001350809.1:n.757-544A>G | |
| XM_011512992.2:c.970-544A>G | XP_011511294.1:n.970-544A>G | |
| XR_001740207.2:n.1207-544A>G | ||
| XR_001740208.2:n.1207-544A>G | ||
| XR_001740209.2:n.1177-544A>G | ||
| XR_001740210.1:n.1037-544A>G | ||
| XR_002959553.1:n.1207-544A>G | ||
| XR_002959554.1:n.1207-544A>G | ||
| XR_241502.3:n.1177-544A>G | ||
| NM_020166.5:c.1084-544A>G MANE Select | NP_064551.3:n.1084-544A>G | |
| NM_001293273.2:c.733-544A>G | NP_001280202.1:n.733-544A>G | |
| NR_120639.2:n.907-544A>G | ||
| NR_120640.2:n.1751-544A>G |