Linked Data
dbSNP Id:
rs10774610
gnomAD v2:
12-111340243-T-C
gnomAD v3:
12-110902439-T-C
gnomAD v4:
12-110902439-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110902439T>C , CM000674.2:g.110902439T>C | GRCh38 |
| NC_000012.11:g.111340243T>C , CM000674.1:g.111340243T>C | GRCh37 |
| NC_000012.10:g.109824626T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000308208.10:c.1343-2149T>C MANE Select | ENSP00000312399.5:n.1343-2149T>C | |
| ENST00000308208.9:c.1343-2149T>C | ENSP00000312399.5:n.1343-2149T>C | |
| ENST00000545036.5:c.1223-2149T>C | ENSP00000445881.1:n.1223-2149T>C | |
| ENST00000552694.1:c.1106-2149T>C | ENSP00000450217.1:n.1106-2149T>C | |
| NM_001286243.1:c.1223-2149T>C | NP_001273172.1:n.1223-2149T>C | |
| NM_001286244.1:c.1106-2149T>C | NP_001273173.1:n.1106-2149T>C | |
| NM_152591.2:c.1343-2149T>C | NP_689804.1:n.1343-2149T>C | |
| XM_006719262.1:c.1343-2149T>C | XP_006719325.1:n.1343-2149T>C | |
| XM_006719263.2:c.1343-2149T>C | XP_006719326.1:n.1343-2149T>C | |
| XM_011537999.1:c.1343-2149T>C | XP_011536301.1:n.1343-2149T>C | |
| XM_011538000.1:c.1343-2149T>C | XP_011536302.1:n.1343-2149T>C | |
| XM_011538001.1:c.1343-2149T>C | XP_011536303.1:n.1343-2149T>C | |
| XM_011538001.2:c.1343-2149T>C | XP_011536303.1:n.1343-2149T>C | |
| NM_001286243.2:c.1223-2149T>C | NP_001273172.1:n.1223-2149T>C | |
| NM_001286244.2:c.1106-2149T>C | NP_001273173.1:n.1106-2149T>C | |
| NM_152591.3:c.1343-2149T>C MANE Select | NP_689804.1:n.1343-2149T>C |