Linked Data
ClinVar Variation Id:
337076
dbSNP Id:
rs374049568
ExAC:
2:74590768 T / C
gnomAD v2:
2-74590768-T-C
gnomAD v3:
2-74363641-T-C
gnomAD v4:
2-74363641-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74363641T>C , CM000664.2:g.74363641T>C | GRCh38 |
| NC_000002.11:g.74590768T>C , CM000664.1:g.74590768T>C | GRCh37 |
| NC_000002.10:g.74444276T>C | NCBI36 |
| NG_008735.2:g.33447A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361874.8:c.3197-214A>G | ENSP00000354791.4:n.3197-214A>G | |
| ENST00000628224.3:c.3197-13A>G MANE Select | ENSP00000487279.2:n.3197-13A>G | |
| ENST00000680606.1:c.3146-13A>G | ENSP00000505612.1:n.3146-13A>G | |
| ENST00000361874.7:c.3197-13A>G | ENSP00000354791.3:n.3197-13A>G | |
| ENST00000394003.7:c.3176-13A>G | ENSP00000377571.3:n.3176-13A>G | |
| ENST00000409240.5:c.3086-214A>G | ENSP00000386406.1:n.3086-214A>G | |
| ENST00000409438.5:c.2795-214A>G | ENSP00000387270.1:n.2795-214A>G | |
| ENST00000409567.7:c.3137-214A>G | ENSP00000386843.3:n.3137-214A>G | |
| ENST00000409868.5:c.3146-214A>G | ENSP00000387327.1:n.3146-214A>G | |
| ENST00000434055.5:c.*496-214A>G | ENSP00000416711.1:n.*496-214A>G | |
| ENST00000466110.5:n.4449-214A>G | ||
| ENST00000491465.5:n.1261A>G | ||
| ENST00000497666.1:n.97-2104A>G | ||
| ENST00000628224.2:c.3146-214A>G | ENSP00000487279.1:n.3146-214A>G | |
| ENST00000633691.1:c.2795-13A>G | ENSP00000487724.1:n.2795-13A>G | |
| NM_001135040.2:c.3137-214A>G | NP_001128512.1:n.3137-214A>G | |
| NM_001135041.2:c.2795-214A>G | NP_001128513.1:n.2795-214A>G | |
| NM_001190836.1:c.3086-214A>G | NP_001177765.1:n.3086-214A>G | |
| NM_001190837.1:c.3176-13A>G | NP_001177766.1:n.3176-13A>G | |
| NM_004082.4:c.3197-13A>G | NP_004073.2:n.3197-13A>G | |
| NM_023019.3:c.2795-13A>G | NP_075408.1:n.2795-13A>G | |
| NR_033935.1:n.3481-214A>G | ||
| NM_001135040.3:c.3137-214A>G | NP_001128512.1:n.3137-214A>G | |
| NM_001135041.3:c.2795-214A>G | NP_001128513.1:n.2795-214A>G | |
| NM_001190836.2:c.3086-214A>G | NP_001177765.1:n.3086-214A>G | |
| NM_001190837.2:c.3176-13A>G | NP_001177766.1:n.3176-13A>G | |
| NM_001378991.1:c.3146-13A>G | NP_001365920.1:n.3146-13A>G | |
| NM_001378992.1:c.3128-13A>G | NP_001365921.1:n.3128-13A>G | |
| NM_004082.5:c.3197-13A>G MANE Select | NP_004073.2:n.3197-13A>G | |
| NM_023019.4:c.2795-13A>G | NP_075408.1:n.2795-13A>G | |
| NR_033935.2:n.3260-214A>G |