Linked Data
dbSNP Id:
rs564344531
ExAC:
13:102379098 G / A
gnomAD v2:
13-102379098-G-A
gnomAD v3:
13-101726748-G-A
gnomAD v4:
13-101726748-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101726748G>A , CM000675.2:g.101726748G>A | GRCh38 |
| NC_000013.10:g.102379098G>A , CM000675.1:g.102379098G>A | GRCh37 |
| NC_000013.9:g.101177099G>A | NCBI36 |
| NG_008317.1:g.680027C>T | |
| NG_008317.2:g.680027C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376131.9:c.486C>T | ENSP00000365301.3:p.Tyr162= | |
| ENST00000418923.3:c.369C>T | ENSP00000516414.1:p.Tyr123= | |
| ENST00000706491.1:c.*75C>T | ENSP00000516413.1:n.*75C>T | |
| ENST00000706492.1:c.*290C>T | ENSP00000516415.1:n.*290C>T | |
| ENST00000706493.1:c.*385C>T | ENSP00000516416.1:n.*385C>T | |
| ENST00000706494.1:c.219C>T | ENSP00000516417.1:p.Tyr73= | |
| ENST00000376143.5:c.471C>T MANE Select | ENSP00000365313.4:p.Tyr157= | |
| ENST00000376131.8:c.486C>T | ENSP00000365301.3:p.Tyr162= | |
| ENST00000376143.4:c.471C>T | ENSP00000365313.4:p.Tyr157= | |
| NM_004115.3:c.471C>T | NP_004106.1:p.Tyr157= | |
| NM_175929.2:c.486C>T | NP_787125.1:p.Tyr162= | |
| XM_011521053.1:c.291C>T | XP_011519355.1:p.Tyr97= | |
| NM_001321931.1:c.219C>T | NP_001308860.1:p.Tyr73= | |
| NM_001321932.1:c.282C>T | NP_001308861.1:p.Tyr94= | |
| NM_001321933.1:c.291C>T | NP_001308862.1:p.Tyr97= | |
| NM_001321934.1:c.219C>T | NP_001308863.1:p.Tyr73= | |
| NM_001321935.1:c.219C>T | NP_001308864.1:p.Tyr73= | |
| NM_001321936.1:c.282C>T | NP_001308865.1:p.Tyr94= | |
| NM_001321938.1:c.291C>T | NP_001308867.1:p.Tyr97= | |
| NM_001321939.1:c.375C>T | NP_001308868.1:p.Tyr125= | |
| NM_001321940.1:c.291C>T | NP_001308869.1:p.Tyr97= | |
| NM_001321941.1:c.285C>T | NP_001308870.1:p.Tyr95= | |
| NM_001321942.1:c.219C>T | NP_001308871.1:p.Tyr73= | |
| NM_001321943.1:c.219C>T | NP_001308872.1:p.Tyr73= | |
| NM_001321944.1:c.282C>T | NP_001308873.1:p.Tyr94= | |
| NM_001321945.1:c.369C>T | NP_001308874.1:p.Tyr123= | |
| NM_001321946.1:c.219C>T | NP_001308875.1:p.Tyr73= | |
| NM_001321947.1:c.330C>T | NP_001308876.1:p.Tyr110= | |
| NM_001321948.1:c.369C>T | NP_001308877.1:p.Tyr123= | |
| NM_001321949.1:c.219C>T | NP_001308878.1:p.Tyr73= | |
| NM_001321938.2:c.291C>T | NP_001308867.1:p.Tyr97= | |
| NM_001321945.2:c.369C>T | NP_001308874.1:p.Tyr123= | |
| NM_001321946.2:c.219C>T | NP_001308875.1:p.Tyr73= | |
| NM_001321947.2:c.330C>T | NP_001308876.1:p.Tyr110= | |
| NM_001321948.2:c.369C>T | NP_001308877.1:p.Tyr123= | |
| NM_001321939.2:c.375C>T | NP_001308868.1:p.Tyr125= | |
| NM_001321941.2:c.285C>T | NP_001308870.1:p.Tyr95= | |
| NM_001379342.1:c.369C>T | NP_001366271.1:p.Tyr123= | |
| NM_004115.4:c.471C>T MANE Select | NP_004106.1:p.Tyr157= | |
| NM_175929.3:c.486C>T | NP_787125.1:p.Tyr162= |