Linked Data
ClinVar Variation Id:
281355
dbSNP Id:
rs147263499
ExAC:
2:71909666 C / T
gnomAD v2:
2-71909666-C-T
gnomAD v3:
2-71682536-C-T
gnomAD v4:
2-71682536-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71682536C>T , CM000664.2:g.71682536C>T | GRCh38 |
| NC_000002.11:g.71909666C>T , CM000664.1:g.71909666C>T | GRCh37 |
| NC_000002.10:g.71763174C>T | NCBI36 |
| NG_008694.1:g.233914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.3594C>T | ENSP00000513536.1:p.Pro1198= | |
| ENST00000698058.1:c.2811C>T | ENSP00000513537.1:p.Pro937= | |
| ENST00000698059.1:c.2919C>T | ENSP00000513538.1:p.Pro973= | |
| ENST00000258104.8:c.6063C>T MANE Plus Clinical | ENSP00000258104.3:p.Pro2021= | |
| ENST00000410020.8:c.6180C>T MANE Select | ENSP00000386881.3:p.Pro2060= | |
| ENST00000258104.7:c.6063C>T | ENSP00000258104.3:p.Pro2021= | |
| ENST00000394120.6:c.6066C>T | ENSP00000377678.2:p.Pro2022= | |
| ENST00000409366.5:c.6129C>T | ENSP00000386512.1:p.Pro2043= | |
| ENST00000409582.7:c.6177C>T | ENSP00000386547.3:p.Pro2059= | |
| ENST00000409651.5:c.6159C>T | ENSP00000386683.1:p.Pro2053= | |
| ENST00000409744.5:c.6087C>T | ENSP00000386285.1:p.Pro2029= | |
| ENST00000409762.5:c.6114C>T | ENSP00000387137.1:p.Pro2038= | |
| ENST00000410020.7:c.6180C>T | ENSP00000386881.3:p.Pro2060= | |
| ENST00000410041.1:c.6117C>T | ENSP00000386617.1:p.Pro2039= | |
| ENST00000413539.6:c.6156C>T | ENSP00000407046.2:p.Pro2052= | |
| ENST00000429174.6:c.6126C>T | ENSP00000398305.2:p.Pro2042= | |
| ENST00000479049.6:n.2948C>T | ||
| NM_001130455.1:c.6066C>T | NP_001123927.1:p.Pro2022= | |
| NM_001130976.1:c.6021C>T | NP_001124448.1:p.Pro2007= | |
| NM_001130977.1:c.6084C>T | NP_001124449.1:p.Pro2028= | |
| NM_001130978.1:c.6126C>T | NP_001124450.1:p.Pro2042= | |
| NM_001130979.1:c.6156C>T | NP_001124451.1:p.Pro2052= | |
| NM_001130980.1:c.6114C>T | NP_001124452.1:p.Pro2038= | |
| NM_001130981.1:c.6177C>T | NP_001124453.1:p.Pro2059= | |
| NM_001130982.1:c.6159C>T | NP_001124454.1:p.Pro2053= | |
| NM_001130983.1:c.6129C>T | NP_001124455.1:p.Pro2043= | |
| NM_001130984.1:c.6087C>T | NP_001124456.1:p.Pro2029= | |
| NM_001130985.1:c.6117C>T | NP_001124457.1:p.Pro2039= | |
| NM_001130986.1:c.6024C>T | NP_001124458.1:p.Pro2008= | |
| NM_001130987.1:c.6180C>T | NP_001124459.1:p.Pro2060= | |
| NM_003494.3:c.6063C>T | NP_003485.1:p.Pro2021= | |
| XM_005264584.3:c.6222C>T | XP_005264641.1:p.Pro2074= | |
| XM_005264585.3:c.6219C>T | XP_005264642.1:p.Pro2073= | |
| XM_005264584.4:c.6222C>T | XP_005264641.1:p.Pro2074= | |
| XM_005264585.5:c.6219C>T | XP_005264642.1:p.Pro2073= | |
| NM_001130987.2:c.6180C>T MANE Select | NP_001124459.1:p.Pro2060= | |
| NM_001130455.2:c.6066C>T | NP_001123927.1:p.Pro2022= | |
| NM_001130976.2:c.6021C>T | NP_001124448.1:p.Pro2007= | |
| NM_001130977.2:c.6084C>T | NP_001124449.1:p.Pro2028= | |
| NM_001130978.2:c.6126C>T | NP_001124450.1:p.Pro2042= | |
| NM_001130979.2:c.6156C>T | NP_001124451.1:p.Pro2052= | |
| NM_001130980.2:c.6114C>T | NP_001124452.1:p.Pro2038= | |
| NM_001130981.2:c.6177C>T | NP_001124453.1:p.Pro2059= | |
| NM_001130982.2:c.6159C>T | NP_001124454.1:p.Pro2053= | |
| NM_001130983.2:c.6129C>T | NP_001124455.1:p.Pro2043= | |
| NM_001130984.2:c.6087C>T | NP_001124456.1:p.Pro2029= | |
| NM_001130985.2:c.6117C>T | NP_001124457.1:p.Pro2039= | |
| NM_001130986.2:c.6024C>T | NP_001124458.1:p.Pro2008= | |
| NM_003494.4:c.6063C>T MANE Plus Clinical | NP_003485.1:p.Pro2021= |