Linked Data
dbSNP Id:
rs2900333
gnomAD v2:
12-14653867-C-T
gnomAD v3:
12-14500933-C-T
gnomAD v4:
12-14500933-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14500933C>T , CM000674.2:g.14500933C>T | GRCh38 |
| NC_000012.11:g.14653867C>T , CM000674.1:g.14653867C>T | GRCh37 |
| NC_000012.10:g.14545134C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261168.9:c.*2860C>T MANE Select | ENSP00000261168.4:n.*2860C>T | |
| ENST00000261168.8:c.*2860C>T | ENSP00000261168.4:n.*2860C>T | |
| ENST00000536444.5:c.*2860C>T | ENSP00000445955.1:n.*2860C>T | |
| NM_001286514.1:c.*2860C>T | NP_001273443.1:n.*2860C>T | |
| NM_018179.4:c.*2860C>T | NP_060649.3:n.*2860C>T | |
| NM_181352.1:c.*2860C>T | NP_851997.1:n.*2860C>T | |
| XM_005253424.4:c.*2860C>T | XP_005253481.1:n.*2860C>T | |
| XM_006719108.3:c.*2860C>T | XP_006719171.1:n.*2860C>T | |
| XM_006719109.3:c.*2860C>T | XP_006719172.1:n.*2860C>T | |
| XM_011520754.3:c.*2860C>T | XP_011519056.1:n.*2860C>T | |
| XM_011520755.2:c.*2860C>T | XP_011519057.1:n.*2860C>T | |
| XM_017019638.1:c.*2860C>T | XP_016875127.1:n.*2860C>T | |
| XM_017019639.1:c.*2860C>T | XP_016875128.1:n.*2860C>T | |
| XR_001748808.2:n.6779C>T | ||
| NM_001286514.2:c.*2860C>T | NP_001273443.1:n.*2860C>T | |
| NM_181352.2:c.*2860C>T | NP_851997.1:n.*2860C>T | |
| NM_001388179.1:c.*2860C>T | NP_001375108.1:n.*2860C>T | |
| NM_001388180.1:c.*2860C>T | NP_001375109.1:n.*2860C>T | |
| NM_001388181.1:c.*2860C>T | NP_001375110.1:n.*2860C>T | |
| NM_001388182.1:c.*2860C>T | NP_001375111.1:n.*2860C>T | |
| NM_001388183.1:c.*2860C>T | NP_001375112.1:n.*2860C>T | |
| NM_001388184.1:c.*2860C>T | NP_001375113.1:n.*2860C>T | |
| NM_018179.5:c.*2860C>T MANE Select | NP_060649.3:n.*2860C>T | |
| NR_170893.1:n.6737C>T |