Linked Data
dbSNP Id:
rs568580297
gnomAD v2:
6-157404587-G-A
gnomAD v3:
6-157083453-G-A
gnomAD v4:
6-157083453-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157083453G>A , CM000668.2:g.157083453G>A | GRCh38 |
| NC_000006.11:g.157404587G>A , CM000668.1:g.157404587G>A | GRCh37 |
| NC_000006.10:g.157446279G>A | NCBI36 |
| NG_032093.1:g.310524G>A | |
| NG_032093.2:g.310524G>A | |
| NG_066624.1:g.312428G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.2248-1209G>A | ENSP00000055163.8:n.2248-1209G>A | |
| ENST00000414678.8:c.2248-1209G>A | ENSP00000412835.3:n.2248-1209G>A | |
| ENST00000637015.2:c.2248-1209G>A | ENSP00000489729.2:n.2248-1209G>A | |
| ENST00000319584.11:c.262-1209G>A | ENSP00000313006.7:n.262-1209G>A | |
| ENST00000346085.10:c.2287-1209G>A | ENSP00000344546.5:n.2287-1209G>A | |
| ENST00000350026.10:c.1999-1209G>A | ENSP00000055163.7:n.1999-1209G>A | |
| ENST00000414678.7:c.496-1209G>A | ENSP00000412835.2:n.496-1209G>A | |
| ENST00000452544.2:n.149-1209G>A | ||
| ENST00000635849.1:c.-252-1209G>A | ENSP00000490948.1:n.-252-1209G>A | |
| ENST00000636930.2:c.2248-1209G>A MANE Select | ENSP00000490491.2:n.2248-1209G>A | |
| ENST00000637003.1:c.-252-1209G>A | ENSP00000489666.1:n.-252-1209G>A | |
| ENST00000637904.1:c.-252-1209G>A | ENSP00000490550.1:n.-252-1209G>A | |
| ENST00000647938.1:c.2038-1209G>A | ENSP00000498155.1:n.2038-1209G>A | |
| ENST00000674190.1:n.997-1209G>A | ||
| ENST00000319584.10:c.265-1209G>A | ENSP00000313006.6:n.265-1209G>A | |
| ENST00000346085.9:c.2038-1209G>A | ENSP00000344546.4:n.2038-1209G>A | |
| ENST00000350026.9:c.1999-1209G>A | ENSP00000055163.7:n.1999-1209G>A | |
| ENST00000414678.6:c.496-1209G>A | ENSP00000412835.2:n.496-1209G>A | |
| ENST00000452544.1:n.107-1209G>A | ||
| NM_017519.2:c.1999-1209G>A | NP_059989.2:n.1999-1209G>A | |
| NM_020732.3:c.2038-1209G>A | NP_065783.3:n.2038-1209G>A | |
| XM_005267069.3:c.1999-1209G>A | XP_005267126.2:n.1999-1209G>A | |
| XM_011535984.1:c.949-1209G>A | XP_011534286.1:n.949-1209G>A | |
| XM_011535985.1:c.949-1209G>A | XP_011534287.1:n.949-1209G>A | |
| XM_011535986.1:c.529-1209G>A | XP_011534288.1:n.529-1209G>A | |
| XM_011535987.1:c.148-1209G>A | XP_011534289.1:n.148-1209G>A | |
| NM_001346813.1:c.1999-1209G>A | NP_001333742.1:n.1999-1209G>A | |
| NM_001363725.1:c.-252-1209G>A | NP_001350654.1:n.-252-1209G>A | |
| XM_011535984.2:c.2080-1209G>A | XP_011534286.2:n.2080-1209G>A | |
| XM_017011103.2:c.2080-1209G>A | XP_016866592.1:n.2080-1209G>A | |
| XM_017011104.1:c.2080-1209G>A | XP_016866593.1:n.2080-1209G>A | |
| XM_017011105.2:c.2080-1209G>A | XP_016866594.1:n.2080-1209G>A | |
| XM_017011106.2:c.2080-1209G>A | XP_016866595.1:n.2080-1209G>A | |
| XM_017011107.2:c.2080-1209G>A | XP_016866596.1:n.2080-1209G>A | |
| XR_002956289.1:n.2163-1209G>A | ||
| NM_001363725.2:c.-252-1209G>A | NP_001350654.1:n.-252-1209G>A | |
| NM_001371656.1:c.2287-1209G>A | NP_001358585.1:n.2287-1209G>A | |
| NM_001374820.1:c.2287-1209G>A | NP_001361749.1:n.2287-1209G>A | |
| NM_001374828.1:c.2248-1209G>A MANE Select | NP_001361757.1:n.2248-1209G>A | |
| NM_017519.3:c.2248-1209G>A | NP_059989.3:n.2248-1209G>A |