Linked Data
dbSNP Id:
rs11617740
gnomAD v2:
13-102680126-G-A
gnomAD v3:
13-102027776-G-A
gnomAD v4:
13-102027776-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.102027776G>A , CM000675.2:g.102027776G>A | GRCh38 |
| NC_000013.10:g.102680126G>A , CM000675.1:g.102680126G>A | GRCh37 |
| NC_000013.9:g.101478127G>A | NCBI36 |
| NG_008317.1:g.378999C>T | |
| NG_008317.2:g.378999C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376131.9:c.209-152480C>T | ENSP00000365301.3:n.209-152480C>T | |
| ENST00000418923.3:c.92-152480C>T | ENSP00000516414.1:n.92-152480C>T | |
| ENST00000706491.1:c.209-152480C>T | ENSP00000516413.1:n.209-152480C>T | |
| ENST00000706492.1:c.*13-152480C>T | ENSP00000516415.1:n.*13-152480C>T | |
| ENST00000706493.1:c.*108-152480C>T | ENSP00000516416.1:n.*108-152480C>T | |
| ENST00000706494.1:c.-59-152480C>T | ENSP00000516417.1:n.-59-152480C>T | |
| ENST00000376131.8:c.209-152480C>T | ENSP00000365301.3:n.209-152480C>T | |
| NM_175929.2:c.209-152480C>T | NP_787125.1:n.209-152480C>T | |
| XM_011521053.1:c.14-152480C>T | XP_011519355.1:n.14-152480C>T | |
| NM_001321931.1:c.-59-152480C>T | NP_001308860.1:n.-59-152480C>T | |
| NM_001321932.1:c.5-152480C>T | NP_001308861.1:n.5-152480C>T | |
| NM_001321933.1:c.14-152480C>T | NP_001308862.1:n.14-152480C>T | |
| NM_001321934.1:c.-59-152480C>T | NP_001308863.1:n.-59-152480C>T | |
| NM_001321935.1:c.-59-152480C>T | NP_001308864.1:n.-59-152480C>T | |
| NM_001321936.1:c.5-152480C>T | NP_001308865.1:n.5-152480C>T | |
| NM_001321937.1:c.209-152480C>T | NP_001308866.1:n.209-152480C>T | |
| NM_001321938.1:c.14-152480C>T | NP_001308867.1:n.14-152480C>T | |
| NM_001321939.1:c.209-158948C>T | NP_001308868.1:n.209-158948C>T | |
| NM_001321940.1:c.14-152480C>T | NP_001308869.1:n.14-152480C>T | |
| NM_001321941.1:c.8-152480C>T | NP_001308870.1:n.8-152480C>T | |
| NM_001321942.1:c.-59-152480C>T | NP_001308871.1:n.-59-152480C>T | |
| NM_001321943.1:c.-59-152480C>T | NP_001308872.1:n.-59-152480C>T | |
| NM_001321944.1:c.5-152480C>T | NP_001308873.1:n.5-152480C>T | |
| NM_001321945.1:c.92-152480C>T | NP_001308874.1:n.92-152480C>T | |
| NM_001321946.1:c.-59-152480C>T | NP_001308875.1:n.-59-152480C>T | |
| NM_001321947.1:c.53-152480C>T | NP_001308876.1:n.53-152480C>T | |
| NM_001321948.1:c.92-152480C>T | NP_001308877.1:n.92-152480C>T | |
| NM_001321949.1:c.-59-152480C>T | NP_001308878.1:n.-59-152480C>T | |
| NM_001321938.2:c.14-152480C>T | NP_001308867.1:n.14-152480C>T | |
| NM_001321945.2:c.92-152480C>T | NP_001308874.1:n.92-152480C>T | |
| NM_001321946.2:c.-59-152480C>T | NP_001308875.1:n.-59-152480C>T | |
| NM_001321947.2:c.53-152480C>T | NP_001308876.1:n.53-152480C>T | |
| NM_001321948.2:c.92-152480C>T | NP_001308877.1:n.92-152480C>T | |
| NM_001321937.2:c.209-152480C>T | NP_001308866.1:n.209-152480C>T | |
| NM_001321939.2:c.209-158948C>T | NP_001308868.1:n.209-158948C>T | |
| NM_001321941.2:c.8-152480C>T | NP_001308870.1:n.8-152480C>T | |
| NM_001379342.1:c.92-152480C>T | NP_001366271.1:n.92-152480C>T | |
| NM_175929.3:c.209-152480C>T | NP_787125.1:n.209-152480C>T |