Linked Data
dbSNP Id:
rs112952850
gnomAD v2:
7-71600490-T-C
gnomAD v3:
7-72135505-T-C
gnomAD v4:
7-72135505-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.72135505T>C , CM000669.2:g.72135505T>C | GRCh38 |
| NC_000007.13:g.71600490T>C , CM000669.1:g.71600490T>C | GRCh37 |
| NC_000007.12:g.71238426T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395275.7:c.245-29211A>G MANE Select | ENSP00000378690.2:n.245-29211A>G | |
| ENST00000329008.9:c.119-29211A>G | ENSP00000332498.5:n.119-29211A>G | |
| ENST00000395275.6:c.245-29211A>G | ENSP00000378690.2:n.245-29211A>G | |
| ENST00000395276.6:c.119-29211A>G | ENSP00000378691.2:n.119-29211A>G | |
| ENST00000431984.5:c.119-29211A>G | ENSP00000410704.1:n.119-29211A>G | |
| ENST00000446128.1:c.119-29211A>G | ENSP00000411806.1:n.119-29211A>G | |
| NM_001017440.2:c.119-29211A>G | NP_001017440.1:n.119-29211A>G | |
| NM_031468.3:c.245-29211A>G | NP_113656.2:n.245-29211A>G | |
| XM_011516593.1:c.119-29211A>G | XP_011514895.1:n.119-29211A>G | |
| XM_011516594.1:c.170-29211A>G | XP_011514896.1:n.170-29211A>G | |
| XM_011516595.1:c.119-29211A>G | XP_011514897.1:n.119-29211A>G | |
| XM_011516596.1:c.119-29211A>G | XP_011514898.1:n.119-29211A>G | |
| XM_011516597.1:c.119-29211A>G | XP_011514899.1:n.119-29211A>G | |
| XM_011516598.1:c.119-29211A>G | XP_011514900.1:n.119-29211A>G | |
| XM_011516599.1:c.119-29211A>G | XP_011514901.1:n.119-29211A>G | |
| NM_001363460.1:c.119-29211A>G | NP_001350389.1:n.119-29211A>G | |
| XM_011516594.3:c.170-29211A>G | XP_011514896.1:n.170-29211A>G | |
| XM_011516596.2:c.119-29211A>G | XP_011514898.1:n.119-29211A>G | |
| XM_011516597.2:c.119-29211A>G | XP_011514899.1:n.119-29211A>G | |
| XM_017012675.1:c.245-29211A>G | XP_016868164.1:n.245-29211A>G | |
| XM_017012676.2:c.245-29211A>G | XP_016868165.1:n.245-29211A>G | |
| XM_017012677.1:c.128-29211A>G | XP_016868166.1:n.128-29211A>G | |
| XM_017012678.1:c.119-29211A>G | XP_016868167.1:n.119-29211A>G | |
| XM_017012679.1:c.119-29211A>G | XP_016868168.1:n.119-29211A>G | |
| XM_017012680.1:c.119-29211A>G | XP_016868169.1:n.119-29211A>G | |
| XM_017012681.1:c.119-29211A>G | XP_016868170.1:n.119-29211A>G | |
| XM_017012682.1:c.119-29211A>G | XP_016868171.1:n.119-29211A>G | |
| XM_017012683.1:c.119-29211A>G | XP_016868172.1:n.119-29211A>G | |
| NM_031468.4:c.245-29211A>G MANE Select | NP_113656.2:n.245-29211A>G | |
| NM_001017440.3:c.119-29211A>G | NP_001017440.1:n.119-29211A>G |