Linked Data
ClinVar Variation Id:
291006
dbSNP Id:
rs752823488
ExAC:
6:33131560 C / T
gnomAD v2:
6-33131560-C-T
gnomAD v3:
6-33163783-C-T
gnomAD v4:
6-33163783-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33163783C>T , CM000668.2:g.33163783C>T | GRCh38 |
| NC_000006.11:g.33131560C>T , CM000668.1:g.33131560C>T | GRCh37 |
| NC_000006.10:g.33239538C>T | NCBI36 |
| NG_011589.1:g.33686G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.912G>A | ||
| ENST00000341947.7:c.5106G>A MANE Select | ENSP00000339915.2:p.Thr1702= | |
| ENST00000341947.6:c.5106G>A | ENSP00000339915.2:p.Thr1702= | |
| ENST00000361917.5:c.4785G>A | ENSP00000355123.1:p.Thr1595= | |
| ENST00000374708.8:c.4848G>A | ENSP00000363840.4:p.Thr1616= | |
| ENST00000477772.1:n.896G>A | ||
| NM_080679.2:c.4785G>A | NP_542410.2:p.Thr1595= | |
| NM_080680.2:c.5106G>A | NP_542411.2:p.Thr1702= | |
| NM_080681.2:c.4848G>A | NP_542412.2:p.Thr1616= | |
| XM_011514298.1:c.4260G>A | XP_011512600.1:p.Thr1420= | |
| XM_011514299.1:c.4392G>A | XP_011512601.1:p.Thr1464= | |
| XM_011514300.1:c.4212G>A | XP_011512602.1:p.Thr1404= | |
| XM_011514301.1:c.4149G>A | XP_011512603.1:p.Thr1383= | |
| XM_011514302.1:c.3993G>A | XP_011512604.1:p.Thr1331= | |
| XM_011514299.2:c.4392G>A | XP_011512601.1:p.Thr1464= | |
| XM_011514300.2:c.4212G>A | XP_011512602.1:p.Thr1404= | |
| XM_011514302.2:c.3993G>A | XP_011512604.1:p.Thr1331= | |
| XM_017010250.1:c.5106G>A | XP_016865739.1:p.Thr1702= | |
| XM_017010251.2:c.3924G>A | XP_016865740.1:p.Thr1308= | |
| NM_080680.3:c.5106G>A MANE Select | NP_542411.2:p.Thr1702= | |
| NM_080681.3:c.4848G>A | NP_542412.2:p.Thr1616= | |
| NM_080679.3:c.4785G>A | NP_542410.2:p.Thr1595= |