Linked Data
dbSNP Id:
rs2290907
gnomAD v2:
17-76093677-T-C
gnomAD v3:
17-78097596-T-C
gnomAD v4:
17-78097596-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78097596T>C , CM000679.2:g.78097596T>C | GRCh38 |
| NC_000017.10:g.76093677T>C , CM000679.1:g.76093677T>C | GRCh37 |
| NC_000017.9:g.73605272T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000588061.6:c.4457-747T>C | ENSP00000468647.2:n.4457-747T>C | |
| ENST00000696270.1:c.4928-149T>C MANE Select | ENSP00000512514.1:n.4928-149T>C | |
| ENST00000696541.1:c.4928-747T>C | ENSP00000512702.1:n.4928-747T>C | |
| ENST00000636222.1:c.4952-149T>C | ENSP00000489933.1:n.4952-149T>C | |
| ENST00000301624.8:c.4307-747T>C | ENSP00000301624.4:n.4307-747T>C | |
| ENST00000335749.4:c.4298-149T>C | ENSP00000336783.4:n.4298-149T>C | |
| ENST00000588061.5:c.4307-747T>C | ENSP00000468647.1:n.4307-747T>C | |
| ENST00000588847.5:c.4298-149T>C | ENSP00000467154.1:n.4298-149T>C | |
| NM_001142640.1:c.4298-149T>C | NP_001136112.1:n.4298-149T>C | |
| NM_018996.3:c.4307-747T>C | NP_061869.2:n.4307-747T>C | |
| XM_005257547.3:c.4928-149T>C | XP_005257604.2:n.4928-149T>C | |
| XM_005257548.3:c.4937-747T>C | XP_005257605.2:n.4937-747T>C | |
| XM_006721996.2:c.4937-149T>C | XP_006722059.2:n.4937-149T>C | |
| XM_006721997.2:c.4787-149T>C | XP_006722060.2:n.4787-149T>C | |
| XM_006721999.2:c.4640-149T>C | XP_006722062.2:n.4640-149T>C | |
| XM_006722000.2:c.4928-747T>C | XP_006722063.2:n.4928-747T>C | |
| XM_011525088.1:c.4307-149T>C | XP_011523390.1:n.4307-149T>C | |
| XM_006721996.4:c.5033-149T>C | XP_006722059.3:n.5033-149T>C | |
| XM_006721997.4:c.4883-149T>C | XP_006722060.3:n.4883-149T>C | |
| XM_006722000.4:c.5024-747T>C | XP_006722063.3:n.5024-747T>C | |
| XM_011525088.2:c.4307-149T>C | XP_011523390.1:n.4307-149T>C | |
| XM_017024906.1:c.5024-149T>C | XP_016880395.1:n.5024-149T>C | |
| XM_017024907.1:c.5033-747T>C | XP_016880396.1:n.5033-747T>C | |
| XM_024450848.1:c.4937-149T>C | XP_024306616.1:n.4937-149T>C | |
| NM_001142640.2:c.4928-149T>C MANE Select | NP_001136112.2:n.4928-149T>C | |
| NM_001395508.1:c.4298-149T>C | NP_001382437.1:n.4298-149T>C | |
| NM_001395509.1:c.4952-747T>C | NP_001382438.1:n.4952-747T>C | |
| NM_001395510.1:c.4928-747T>C | NP_001382439.1:n.4928-747T>C | |
| NM_001395511.1:c.4322-149T>C | NP_001382440.1:n.4322-149T>C | |
| NM_001395512.1:c.4298-747T>C | NP_001382441.1:n.4298-747T>C |