Linked Data
ClinVar Variation Id:
930645
ClinVar RCV Id:
RCV001196455
dbSNP Id:
rs2035466147
gnomAD v4:
13-101726790-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101726790G>T , CM000675.2:g.101726790G>T | GRCh38 |
| NC_000013.10:g.102379140G>T , CM000675.1:g.102379140G>T | GRCh37 |
| NC_000013.9:g.101177141G>T | NCBI36 |
| NG_008317.1:g.679985C>A | |
| NG_008317.2:g.679985C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376131.9:c.444C>A | ENSP00000365301.3:p.Cys148Ter | |
| ENST00000418923.3:c.327C>A | ENSP00000516414.1:p.Cys109Ter | |
| ENST00000706491.1:c.*33C>A | ENSP00000516413.1:n.*33C>A | |
| ENST00000706492.1:c.*248C>A | ENSP00000516415.1:n.*248C>A | |
| ENST00000706493.1:c.*343C>A | ENSP00000516416.1:n.*343C>A | |
| ENST00000706494.1:c.177C>A | ENSP00000516417.1:p.Cys59Ter | |
| ENST00000376143.5:c.429C>A MANE Select | ENSP00000365313.4:p.Cys143Ter | |
| ENST00000376131.8:c.444C>A | ENSP00000365301.3:p.Cys148Ter | |
| ENST00000376143.4:c.429C>A | ENSP00000365313.4:p.Cys143Ter | |
| NM_004115.3:c.429C>A | NP_004106.1:p.Cys143Ter | |
| NM_175929.2:c.444C>A | NP_787125.1:p.Cys148Ter | |
| XM_011521053.1:c.249C>A | XP_011519355.1:p.Cys83Ter | |
| NM_001321931.1:c.177C>A | NP_001308860.1:p.Cys59Ter | |
| NM_001321932.1:c.240C>A | NP_001308861.1:p.Cys80Ter | |
| NM_001321933.1:c.249C>A | NP_001308862.1:p.Cys83Ter | |
| NM_001321934.1:c.177C>A | NP_001308863.1:p.Cys59Ter | |
| NM_001321935.1:c.177C>A | NP_001308864.1:p.Cys59Ter | |
| NM_001321936.1:c.240C>A | NP_001308865.1:p.Cys80Ter | |
| NM_001321938.1:c.249C>A | NP_001308867.1:p.Cys83Ter | |
| NM_001321939.1:c.333C>A | NP_001308868.1:p.Cys111Ter | |
| NM_001321940.1:c.249C>A | NP_001308869.1:p.Cys83Ter | |
| NM_001321941.1:c.243C>A | NP_001308870.1:p.Cys81Ter | |
| NM_001321942.1:c.177C>A | NP_001308871.1:p.Cys59Ter | |
| NM_001321943.1:c.177C>A | NP_001308872.1:p.Cys59Ter | |
| NM_001321944.1:c.240C>A | NP_001308873.1:p.Cys80Ter | |
| NM_001321945.1:c.327C>A | NP_001308874.1:p.Cys109Ter | |
| NM_001321946.1:c.177C>A | NP_001308875.1:p.Cys59Ter | |
| NM_001321947.1:c.288C>A | NP_001308876.1:p.Cys96Ter | |
| NM_001321948.1:c.327C>A | NP_001308877.1:p.Cys109Ter | |
| NM_001321949.1:c.177C>A | NP_001308878.1:p.Cys59Ter | |
| NM_001321938.2:c.249C>A | NP_001308867.1:p.Cys83Ter | |
| NM_001321945.2:c.327C>A | NP_001308874.1:p.Cys109Ter | |
| NM_001321946.2:c.177C>A | NP_001308875.1:p.Cys59Ter | |
| NM_001321947.2:c.288C>A | NP_001308876.1:p.Cys96Ter | |
| NM_001321948.2:c.327C>A | NP_001308877.1:p.Cys109Ter | |
| NM_001321939.2:c.333C>A | NP_001308868.1:p.Cys111Ter | |
| NM_001321941.2:c.243C>A | NP_001308870.1:p.Cys81Ter | |
| NM_001379342.1:c.327C>A | NP_001366271.1:p.Cys109Ter | |
| NM_004115.4:c.429C>A MANE Select | NP_004106.1:p.Cys143Ter | |
| NM_175929.3:c.444C>A | NP_787125.1:p.Cys148Ter |