Linked Data
ClinVar Variation Id:
741751
ClinVar RCV Id:
RCV001468868
dbSNP Id:
rs746473075
gnomAD v2:
5-131721114-T-C
gnomAD v3:
5-132385422-T-C
gnomAD v4:
5-132385422-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132385422T>C , CM000667.2:g.132385422T>C | GRCh38 |
| NC_000005.9:g.131721114T>C , CM000667.1:g.131721114T>C | GRCh37 |
| NC_000005.8:g.131749013T>C | NCBI36 |
| NG_008982.1:g.20714T>C | |
| NG_008982.2:g.20719T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.665+1108T>C | ENSP00000388838.2:n.665+1108T>C | |
| ENST00000435065.7:c.819T>C | ENSP00000402760.2:p.Phe273= | |
| ENST00000448810.6:c.747T>C | ENSP00000401860.2:p.Phe249= | |
| ENST00000686757.1:c.766T>C | ENSP00000510721.1:p.Cys256Arg | |
| ENST00000687740.1:n.1907T>C | ||
| ENST00000688151.1:n.1939T>C | ||
| ENST00000689271.1:c.671+1102T>C | ENSP00000510797.1:n.671+1102T>C | |
| ENST00000690900.1:c.718T>C | ENSP00000510703.1:p.Cys240Arg | |
| ENST00000692212.1:n.573T>C | ||
| ENST00000692355.1:c.204+1121T>C | ||
| ENST00000692413.1:c.766T>C | ENSP00000509374.1:p.Cys256Arg | |
| ENST00000692825.1:c.815T>C | ENSP00000509447.1:n.815T>C | |
| ENST00000693308.1:c.760T>C | ENSP00000509770.1:p.Cys254Arg | |
| ENST00000693763.1:n.1907T>C | ||
| ENST00000245407.8:c.747T>C MANE Select | ENSP00000245407.3:p.Phe249= | |
| ENST00000245407.7:c.747T>C | ENSP00000245407.3:p.Phe249= | |
| ENST00000415928.5:c.516T>C | ENSP00000388838.1:p.Phe172= | |
| ENST00000435065.6:c.819T>C | ENSP00000402760.2:p.Phe273= | |
| ENST00000437841.6:c.*62T>C | ENSP00000400553.1:n.*62T>C | |
| ENST00000448810.5:c.95T>C | ||
| ENST00000461013.5:n.8169T>C | ||
| NM_001308122.1:c.819T>C | NP_001295051.1:p.Phe273= | |
| NM_003060.3:c.747T>C | NP_003051.1:p.Phe249= | |
| XM_011543590.1:c.129T>C | XP_011541892.1:p.Phe43= | |
| XR_427718.1:n.1107T>C | ||
| XR_948290.1:n.1088T>C | ||
| XR_948291.1:n.1101T>C | ||
| XM_011543590.2:c.129T>C | XP_011541892.1:p.Phe43= | |
| XM_017009778.2:c.219T>C | XP_016865267.1:p.Phe73= | |
| XR_001742215.1:n.1088T>C | ||
| XR_001742216.1:n.1107T>C | ||
| XR_427718.2:n.1107T>C | ||
| XR_948290.2:n.1088T>C | ||
| XR_948291.2:n.1101T>C | ||
| NM_003060.4:c.747T>C MANE Select | NP_003051.1:p.Phe249= | |
| NM_001308122.2:c.819T>C | NP_001295051.1:p.Phe273= |