Linked Data
dbSNP Id:
rs12666280
gnomAD v2:
7-154509324-T-C
gnomAD v3:
7-154717614-T-C
gnomAD v4:
7-154717614-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.154717614T>C , CM000669.2:g.154717614T>C | GRCh38 |
| NC_000007.13:g.154509324T>C , CM000669.1:g.154509324T>C | GRCh37 |
| NC_000007.12:g.154140257T>C | NCBI36 |
| NG_033878.1:g.835281T>C | |
| NG_033878.2:g.974629T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706130.1:c.580-10153T>C | ENSP00000516215.1:n.580-10153T>C | |
| ENST00000706151.1:c.-213-10153T>C | ENSP00000516234.1:n.-213-10153T>C | |
| ENST00000706153.1:n.409-10153T>C | ||
| ENST00000377770.8:c.763-10153T>C MANE Select | ENSP00000367001.3:n.763-10153T>C | |
| ENST00000332007.7:c.577-10153T>C | ENSP00000328226.3:n.577-10153T>C | |
| ENST00000377770.7:c.763-10153T>C | ENSP00000367001.3:n.763-10153T>C | |
| ENST00000404039.5:c.571-10153T>C | ENSP00000385578.1:n.571-10153T>C | |
| ENST00000427557.1:c.442-10153T>C | ENSP00000397303.1:n.442-10153T>C | |
| NM_001039350.2:c.571-10153T>C | NP_001034439.1:n.571-10153T>C | |
| NM_001290252.1:c.442-10153T>C | NP_001277181.1:n.442-10153T>C | |
| NM_001936.4:c.577-10153T>C | NP_001927.3:n.577-10153T>C | |
| NM_130797.3:c.763-10153T>C | NP_570629.2:n.763-10153T>C | |
| XM_011515865.1:c.571-10153T>C | XP_011514167.1:n.571-10153T>C | |
| XM_011515866.1:c.139-10153T>C | XP_011514168.1:n.139-10153T>C | |
| NM_001364497.1:c.580-10153T>C | NP_001351426.1:n.580-10153T>C | |
| NM_001364498.1:c.580-10153T>C | NP_001351427.1:n.580-10153T>C | |
| NM_001364499.1:c.580-10153T>C | NP_001351428.1:n.580-10153T>C | |
| NM_001364500.1:c.580-10153T>C | NP_001351429.1:n.580-10153T>C | |
| NM_001364501.1:c.571-10153T>C | NP_001351430.1:n.571-10153T>C | |
| NR_157195.1:n.1213-10153T>C | ||
| NR_157196.1:n.913-10153T>C | ||
| XM_017011812.2:c.139-10153T>C | XP_016867301.1:n.139-10153T>C | |
| NM_130797.4:c.763-10153T>C MANE Select | NP_570629.2:n.763-10153T>C | |
| NM_001039350.3:c.571-10153T>C | NP_001034439.1:n.571-10153T>C | |
| NM_001290252.2:c.442-10153T>C | NP_001277181.1:n.442-10153T>C | |
| NM_001364497.2:c.580-10153T>C | NP_001351426.1:n.580-10153T>C | |
| NM_001364498.2:c.580-10153T>C | NP_001351427.1:n.580-10153T>C | |
| NM_001364499.2:c.580-10153T>C | NP_001351428.1:n.580-10153T>C | |
| NM_001364500.2:c.580-10153T>C | NP_001351429.1:n.580-10153T>C | |
| NM_001936.5:c.577-10153T>C | NP_001927.3:n.577-10153T>C | |
| NR_157196.2:n.913-10153T>C | ||
| NM_001364501.2:c.571-10153T>C | NP_001351430.1:n.571-10153T>C | |
| NR_157195.2:n.1213-10153T>C |