Linked Data
ClinVar Variation Id:
756969
ClinVar RCV Id:
RCV000934519
dbSNP Id:
rs1012487647
gnomAD v2:
5-131726430-C-T
gnomAD v3:
5-132390738-C-T
gnomAD v4:
5-132390738-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390738C>T , CM000667.2:g.132390738C>T | GRCh38 |
| NC_000005.9:g.131726430C>T , CM000667.1:g.131726430C>T | GRCh37 |
| NC_000005.8:g.131754329C>T | NCBI36 |
| NG_008982.1:g.26030C>T | |
| NG_008982.2:g.26035C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.942C>T | ENSP00000388838.2:p.Asn314= | |
| ENST00000435065.7:c.1173C>T | ENSP00000402760.2:p.Asn391= | |
| ENST00000448810.6:c.1053-38C>T | ENSP00000401860.2:n.1053-38C>T | |
| ENST00000685543.1:n.1242C>T | ||
| ENST00000686757.1:c.*265C>T | ENSP00000510721.1:n.*265C>T | |
| ENST00000687740.1:n.3786C>T | ||
| ENST00000688151.1:n.2411C>T | ||
| ENST00000689271.1:c.948C>T | ENSP00000510797.1:p.Asn316= | |
| ENST00000690900.1:c.*265C>T | ENSP00000510703.1:n.*265C>T | |
| ENST00000692212.1:n.2713C>T | ||
| ENST00000692355.1:c.354C>T | ||
| ENST00000692413.1:c.1083C>T | ENSP00000509374.1:p.Asn361= | |
| ENST00000692825.1:c.1169C>T | ENSP00000509447.1:n.1169C>T | |
| ENST00000693308.1:c.1149C>T | ENSP00000509770.1:p.Asn383= | |
| ENST00000693763.1:n.2261C>T | ||
| ENST00000245407.8:c.1101C>T MANE Select | ENSP00000245407.3:p.Asn367= | |
| ENST00000245407.7:c.1101C>T | ENSP00000245407.3:p.Asn367= | |
| ENST00000435065.6:c.1173C>T | ENSP00000402760.2:p.Asn391= | |
| ENST00000447841.5:c.112-1695C>T | ||
| ENST00000448810.5:c.401-38C>T | ||
| ENST00000461013.5:n.8523C>T | ||
| ENST00000475308.1:n.1779C>T | ||
| ENST00000479605.5:n.204C>T | ||
| NM_001308122.1:c.1173C>T | NP_001295051.1:p.Asn391= | |
| NM_003060.3:c.1101C>T | NP_003051.1:p.Asn367= | |
| XM_011543590.1:c.483C>T | XP_011541892.1:p.Asn161= | |
| XR_427718.1:n.1461C>T | ||
| XR_948290.1:n.1394-1695C>T | ||
| XR_948291.1:n.1455C>T | ||
| XM_011543590.2:c.483C>T | XP_011541892.1:p.Asn161= | |
| XM_017009778.2:c.573C>T | XP_016865267.1:p.Asn191= | |
| XR_001742215.1:n.1394-38C>T | ||
| XR_001742216.1:n.1413-38C>T | ||
| XR_427718.2:n.1461C>T | ||
| XR_948290.2:n.1394-1695C>T | ||
| XR_948291.2:n.1455C>T | ||
| NM_003060.4:c.1101C>T MANE Select | NP_003051.1:p.Asn367= | |
| NM_001308122.2:c.1173C>T | NP_001295051.1:p.Asn391= |