Linked Data
ClinVar Variation Id:
391897
dbSNP Id:
rs138045609
ExAC:
6:33139071 T / G
gnomAD v2:
6-33139071-T-G
gnomAD v3:
6-33171294-T-G
gnomAD v4:
6-33171294-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33171294T>G , CM000668.2:g.33171294T>G | GRCh38 |
| NC_000006.11:g.33139071T>G , CM000668.1:g.33139071T>G | GRCh37 |
| NC_000006.10:g.33247049T>G | NCBI36 |
| NG_011589.1:g.26175A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.3289A>C MANE Select | ENSP00000339915.2:p.Thr1097Pro | |
| ENST00000341947.6:c.3289A>C | ENSP00000339915.2:p.Thr1097Pro | |
| ENST00000361917.5:c.2968A>C | ENSP00000355123.1:p.Thr990Pro | |
| ENST00000374708.8:c.3031A>C | ENSP00000363840.4:p.Thr1011Pro | |
| ENST00000477772.1:n.273-5478A>C | ||
| NM_080679.2:c.2968A>C | NP_542410.2:p.Thr990Pro | |
| NM_080680.2:c.3289A>C | NP_542411.2:p.Thr1097Pro | |
| NM_080681.2:c.3031A>C | NP_542412.2:p.Thr1011Pro | |
| XM_011514298.1:c.2443A>C | XP_011512600.1:p.Thr815Pro | |
| XM_011514299.1:c.2575A>C | XP_011512601.1:p.Thr859Pro | |
| XM_011514300.1:c.2395A>C | XP_011512602.1:p.Thr799Pro | |
| XM_011514301.1:c.2332A>C | XP_011512603.1:p.Thr778Pro | |
| XM_011514302.1:c.2176A>C | XP_011512604.1:p.Thr726Pro | |
| XM_011514299.2:c.2575A>C | XP_011512601.1:p.Thr859Pro | |
| XM_011514300.2:c.2395A>C | XP_011512602.1:p.Thr799Pro | |
| XM_011514302.2:c.2176A>C | XP_011512604.1:p.Thr726Pro | |
| XM_017010250.1:c.3289A>C | XP_016865739.1:p.Thr1097Pro | |
| XM_017010251.2:c.2107A>C | XP_016865740.1:p.Thr703Pro | |
| NM_080680.3:c.3289A>C MANE Select | NP_542411.2:p.Thr1097Pro | |
| NM_080681.3:c.3031A>C | NP_542412.2:p.Thr1011Pro | |
| NM_080679.3:c.2968A>C | NP_542410.2:p.Thr990Pro |