Linked Data
ClinVar Variation Id:
195595
dbSNP Id:
rs374489513
ExAC:
2:71780933 C / G
gnomAD v2:
2-71780933-C-G
gnomAD v3:
2-71553803-C-G
gnomAD v4:
2-71553803-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71553803C>G , CM000664.2:g.71553803C>G | GRCh38 |
| NC_000002.11:g.71780933C>G , CM000664.1:g.71780933C>G | GRCh37 |
| NC_000002.10:g.71634441C>G | NCBI36 |
| NG_008694.1:g.105181C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258104.8:c.1931-4C>G MANE Plus Clinical | ENSP00000258104.3:n.1931-4C>G | |
| ENST00000410020.8:c.1985-4C>G MANE Select | ENSP00000386881.3:n.1985-4C>G | |
| ENST00000258104.7:c.1931-4C>G | ENSP00000258104.3:n.1931-4C>G | |
| ENST00000394120.6:c.1934-4C>G | ENSP00000377678.2:n.1934-4C>G | |
| ENST00000409366.5:c.1934-4C>G | ENSP00000386512.1:n.1934-4C>G | |
| ENST00000409582.7:c.1982-4C>G | ENSP00000386547.3:n.1982-4C>G | |
| ENST00000409651.5:c.2027-4C>G | ENSP00000386683.1:n.2027-4C>G | |
| ENST00000409744.5:c.1892-4C>G | ENSP00000386285.1:n.1892-4C>G | |
| ENST00000409762.5:c.1982-4C>G | ENSP00000387137.1:n.1982-4C>G | |
| ENST00000410020.7:c.1985-4C>G | ENSP00000386881.3:n.1985-4C>G | |
| ENST00000410041.1:c.1985-4C>G | ENSP00000386617.1:n.1985-4C>G | |
| ENST00000413539.6:c.2024-4C>G | ENSP00000407046.2:n.2024-4C>G | |
| ENST00000429174.6:c.1931-4C>G | ENSP00000398305.2:n.1931-4C>G | |
| NM_001130455.1:c.1934-4C>G | NP_001123927.1:n.1934-4C>G | |
| NM_001130976.1:c.1889-4C>G | NP_001124448.1:n.1889-4C>G | |
| NM_001130977.1:c.1889-4C>G | NP_001124449.1:n.1889-4C>G | |
| NM_001130978.1:c.1931-4C>G | NP_001124450.1:n.1931-4C>G | |
| NM_001130979.1:c.2024-4C>G | NP_001124451.1:n.2024-4C>G | |
| NM_001130980.1:c.1982-4C>G | NP_001124452.1:n.1982-4C>G | |
| NM_001130981.1:c.1982-4C>G | NP_001124453.1:n.1982-4C>G | |
| NM_001130982.1:c.2027-4C>G | NP_001124454.1:n.2027-4C>G | |
| NM_001130983.1:c.1934-4C>G | NP_001124455.1:n.1934-4C>G | |
| NM_001130984.1:c.1892-4C>G | NP_001124456.1:n.1892-4C>G | |
| NM_001130985.1:c.1985-4C>G | NP_001124457.1:n.1985-4C>G | |
| NM_001130986.1:c.1892-4C>G | NP_001124458.1:n.1892-4C>G | |
| NM_001130987.1:c.1985-4C>G | NP_001124459.1:n.1985-4C>G | |
| NM_003494.3:c.1931-4C>G | NP_003485.1:n.1931-4C>G | |
| XM_005264584.3:c.2027-4C>G | XP_005264641.1:n.2027-4C>G | |
| XM_005264585.3:c.2024-4C>G | XP_005264642.1:n.2024-4C>G | |
| XM_005264584.4:c.2027-4C>G | XP_005264641.1:n.2027-4C>G | |
| XM_005264585.5:c.2024-4C>G | XP_005264642.1:n.2024-4C>G | |
| XR_001738969.1:n.2185-4C>G | ||
| NM_001130987.2:c.1985-4C>G MANE Select | NP_001124459.1:n.1985-4C>G | |
| NM_001130455.2:c.1934-4C>G | NP_001123927.1:n.1934-4C>G | |
| NM_001130976.2:c.1889-4C>G | NP_001124448.1:n.1889-4C>G | |
| NM_001130977.2:c.1889-4C>G | NP_001124449.1:n.1889-4C>G | |
| NM_001130978.2:c.1931-4C>G | NP_001124450.1:n.1931-4C>G | |
| NM_001130979.2:c.2024-4C>G | NP_001124451.1:n.2024-4C>G | |
| NM_001130980.2:c.1982-4C>G | NP_001124452.1:n.1982-4C>G | |
| NM_001130981.2:c.1982-4C>G | NP_001124453.1:n.1982-4C>G | |
| NM_001130982.2:c.2027-4C>G | NP_001124454.1:n.2027-4C>G | |
| NM_001130983.2:c.1934-4C>G | NP_001124455.1:n.1934-4C>G | |
| NM_001130984.2:c.1892-4C>G | NP_001124456.1:n.1892-4C>G | |
| NM_001130985.2:c.1985-4C>G | NP_001124457.1:n.1985-4C>G | |
| NM_001130986.2:c.1892-4C>G | NP_001124458.1:n.1892-4C>G | |
| NM_003494.4:c.1931-4C>G MANE Plus Clinical | NP_003485.1:n.1931-4C>G |