Linked Data
ClinVar Variation Id:
291071
dbSNP Id:
rs201191038
ExAC:
2:71901319 C / T
gnomAD v2:
2-71901319-C-T
gnomAD v3:
2-71674189-C-T
gnomAD v4:
2-71674189-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71674189C>T , CM000664.2:g.71674189C>T | GRCh38 |
| NC_000002.11:g.71901319C>T , CM000664.1:g.71901319C>T | GRCh37 |
| NC_000002.10:g.71754827C>T | NCBI36 |
| NG_008694.1:g.225567C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.3199-8C>T | ENSP00000513536.1:n.3199-8C>T | |
| ENST00000698058.1:c.2416-8C>T | ENSP00000513537.1:n.2416-8C>T | |
| ENST00000698059.1:c.2524-8C>T | ENSP00000513538.1:n.2524-8C>T | |
| ENST00000258104.8:c.5668-8C>T MANE Plus Clinical | ENSP00000258104.3:n.5668-8C>T | |
| ENST00000410020.8:c.5785-8C>T MANE Select | ENSP00000386881.3:n.5785-8C>T | |
| ENST00000258104.7:c.5668-8C>T | ENSP00000258104.3:n.5668-8C>T | |
| ENST00000394120.6:c.5671-8C>T | ENSP00000377678.2:n.5671-8C>T | |
| ENST00000409366.5:c.5734-8C>T | ENSP00000386512.1:n.5734-8C>T | |
| ENST00000409582.7:c.5782-8C>T | ENSP00000386547.3:n.5782-8C>T | |
| ENST00000409651.5:c.5764-8C>T | ENSP00000386683.1:n.5764-8C>T | |
| ENST00000409744.5:c.5692-8C>T | ENSP00000386285.1:n.5692-8C>T | |
| ENST00000409762.5:c.5719-8C>T | ENSP00000387137.1:n.5719-8C>T | |
| ENST00000410020.7:c.5785-8C>T | ENSP00000386881.3:n.5785-8C>T | |
| ENST00000410041.1:c.5722-8C>T | ENSP00000386617.1:n.5722-8C>T | |
| ENST00000413539.6:c.5761-8C>T | ENSP00000407046.2:n.5761-8C>T | |
| ENST00000429174.6:c.5731-8C>T | ENSP00000398305.2:n.5731-8C>T | |
| ENST00000479049.6:n.2553-8C>T | ||
| NM_001130455.1:c.5671-8C>T | NP_001123927.1:n.5671-8C>T | |
| NM_001130976.1:c.5626-8C>T | NP_001124448.1:n.5626-8C>T | |
| NM_001130977.1:c.5689-8C>T | NP_001124449.1:n.5689-8C>T | |
| NM_001130978.1:c.5731-8C>T | NP_001124450.1:n.5731-8C>T | |
| NM_001130979.1:c.5761-8C>T | NP_001124451.1:n.5761-8C>T | |
| NM_001130980.1:c.5719-8C>T | NP_001124452.1:n.5719-8C>T | |
| NM_001130981.1:c.5782-8C>T | NP_001124453.1:n.5782-8C>T | |
| NM_001130982.1:c.5764-8C>T | NP_001124454.1:n.5764-8C>T | |
| NM_001130983.1:c.5734-8C>T | NP_001124455.1:n.5734-8C>T | |
| NM_001130984.1:c.5692-8C>T | NP_001124456.1:n.5692-8C>T | |
| NM_001130985.1:c.5722-8C>T | NP_001124457.1:n.5722-8C>T | |
| NM_001130986.1:c.5629-8C>T | NP_001124458.1:n.5629-8C>T | |
| NM_001130987.1:c.5785-8C>T | NP_001124459.1:n.5785-8C>T | |
| NM_003494.3:c.5668-8C>T | NP_003485.1:n.5668-8C>T | |
| XM_005264584.3:c.5827-8C>T | XP_005264641.1:n.5827-8C>T | |
| XM_005264585.3:c.5824-8C>T | XP_005264642.1:n.5824-8C>T | |
| XM_005264584.4:c.5827-8C>T | XP_005264641.1:n.5827-8C>T | |
| XM_005264585.5:c.5824-8C>T | XP_005264642.1:n.5824-8C>T | |
| NM_001130987.2:c.5785-8C>T MANE Select | NP_001124459.1:n.5785-8C>T | |
| NM_001130455.2:c.5671-8C>T | NP_001123927.1:n.5671-8C>T | |
| NM_001130976.2:c.5626-8C>T | NP_001124448.1:n.5626-8C>T | |
| NM_001130977.2:c.5689-8C>T | NP_001124449.1:n.5689-8C>T | |
| NM_001130978.2:c.5731-8C>T | NP_001124450.1:n.5731-8C>T | |
| NM_001130979.2:c.5761-8C>T | NP_001124451.1:n.5761-8C>T | |
| NM_001130980.2:c.5719-8C>T | NP_001124452.1:n.5719-8C>T | |
| NM_001130981.2:c.5782-8C>T | NP_001124453.1:n.5782-8C>T | |
| NM_001130982.2:c.5764-8C>T | NP_001124454.1:n.5764-8C>T | |
| NM_001130983.2:c.5734-8C>T | NP_001124455.1:n.5734-8C>T | |
| NM_001130984.2:c.5692-8C>T | NP_001124456.1:n.5692-8C>T | |
| NM_001130985.2:c.5722-8C>T | NP_001124457.1:n.5722-8C>T | |
| NM_001130986.2:c.5629-8C>T | NP_001124458.1:n.5629-8C>T | |
| NM_003494.4:c.5668-8C>T MANE Plus Clinical | NP_003485.1:n.5668-8C>T |