Linked Data
dbSNP Id:
rs1356138286
gnomAD v2:
6-94008462-T-A
gnomAD v3:
6-93298744-T-A
gnomAD v4:
6-93298744-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.93298744T>A , CM000668.2:g.93298744T>A | GRCh38 |
| NC_000006.11:g.94008462T>A , CM000668.1:g.94008462T>A | GRCh37 |
| NC_000006.10:g.94065183T>A | NCBI36 |
| NG_033944.1:g.125839A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369303.9:c.1325-26322A>T MANE Select | ENSP00000358309.4:n.1325-26322A>T | |
| ENST00000679565.1:c.1325-26322A>T | ENSP00000506548.1:n.1325-26322A>T | |
| ENST00000679915.1:n.1537-26322A>T | ||
| ENST00000680082.1:c.1325-26322A>T | ENSP00000506654.1:n.1325-26322A>T | |
| ENST00000680190.1:c.1097-26322A>T | ENSP00000505937.1:n.1097-26322A>T | |
| ENST00000680224.1:c.1325-26322A>T | ENSP00000506130.1:n.1325-26322A>T | |
| ENST00000680473.1:n.1563-26322A>T | ||
| ENST00000680813.1:n.567-26322A>T | ||
| ENST00000680953.1:c.1097-26322A>T | ENSP00000505682.1:n.1097-26322A>T | |
| ENST00000681130.1:c.1325-26322A>T | ENSP00000505801.1:n.1325-26322A>T | |
| ENST00000681532.1:c.1325-26322A>T | ENSP00000505741.1:n.1325-26322A>T | |
| ENST00000681647.1:n.1536-14360A>T | ||
| ENST00000369303.8:c.1325-26322A>T | ENSP00000358309.4:n.1325-26322A>T | |
| NM_001288629.1:c.1325-26322A>T | NP_001275558.1:n.1325-26322A>T | |
| NM_004440.3:c.1325-26322A>T | NP_004431.1:n.1325-26322A>T | |
| XM_005248669.1:c.1325-26322A>T | XP_005248726.1:n.1325-26322A>T | |
| XM_005248671.1:c.1325-26322A>T | XP_005248728.1:n.1325-26322A>T | |
| XM_005248669.3:c.1325-26322A>T | XP_005248726.1:n.1325-26322A>T | |
| XM_005248671.3:c.1325-26322A>T | XP_005248728.1:n.1325-26322A>T | |
| XM_017010365.2:c.1325-26322A>T | XP_016865854.1:n.1325-26322A>T | |
| XR_001743218.2:n.1568-26322A>T | ||
| NM_004440.4:c.1325-26322A>T MANE Select | NP_004431.1:n.1325-26322A>T | |
| NM_001288629.2:c.1325-26322A>T | NP_001275558.1:n.1325-26322A>T | |
| NM_001376465.1:c.1325-26322A>T | NP_001363394.1:n.1325-26322A>T | |
| NM_001376466.1:c.1325-26322A>T | NP_001363395.1:n.1325-26322A>T | |
| NM_001376467.1:c.1325-26322A>T | NP_001363396.1:n.1325-26322A>T | |
| NM_001376468.1:c.1325-26322A>T | NP_001363397.1:n.1325-26322A>T | |
| NM_001376470.1:c.1097-26322A>T | NP_001363399.1:n.1097-26322A>T | |
| NM_001376471.1:c.1097-26322A>T | NP_001363400.1:n.1097-26322A>T | |
| NR_164810.1:n.1543-26322A>T |