Linked Data
dbSNP Id:
rs613120
gnomAD v2:
11-100974278-A-G
gnomAD v3:
11-101103547-A-G
gnomAD v4:
11-101103547-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101103547A>G , CM000673.2:g.101103547A>G | GRCh38 |
| NC_000011.9:g.100974278A>G , CM000673.1:g.100974278A>G | GRCh37 |
| NC_000011.8:g.100479488A>G | NCBI36 |
| NG_016475.1:g.31267T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325455.10:c.1790-11671T>C MANE Select | ENSP00000325120.5:n.1790-11671T>C | |
| ENST00000263463.9:c.1790-11671T>C | ENSP00000263463.5:n.1790-11671T>C | |
| ENST00000325455.9:c.1790-11671T>C | ENSP00000325120.5:n.1790-11671T>C | |
| ENST00000526300.5:c.1790-11671T>C | ENSP00000436803.1:n.1790-11671T>C | |
| ENST00000528960.5:c.1789+22460T>C | ENSP00000432914.1:n.1789+22460T>C | |
| ENST00000534013.5:c.8-11671T>C | ENSP00000436561.1:n.8-11671T>C | |
| ENST00000534780.5:c.1790-11671T>C | ENSP00000432352.1:n.1790-11671T>C | |
| ENST00000617858.4:c.1790-11671T>C | ENSP00000481227.1:n.1790-11671T>C | |
| ENST00000619228.2:c.1789+22460T>C | ENSP00000482698.1:n.1789+22460T>C | |
| ENST00000632634.1:c.212-11671T>C | ENSP00000487607.1:n.212-11671T>C | |
| NM_000926.4:c.1790-11671T>C MANE Select | NP_000917.3:n.1790-11671T>C | |
| NM_001202474.3:c.1298-11671T>C | NP_001189403.1:n.1298-11671T>C | |
| NM_001271161.2:c.1298-11671T>C | NP_001258090.1:n.1298-11671T>C | |
| NM_001271162.1:c.8-11671T>C | NP_001258091.1:n.8-11671T>C | |
| NR_073141.2:n.1783-11671T>C | ||
| NR_073142.2:n.1782+22460T>C | ||
| NR_073143.2:n.1783-11671T>C | ||
| XM_006718858.2:c.1790-11671T>C | XP_006718921.1:n.1790-11671T>C | |
| XR_947831.1:n.3362-11671T>C | ||
| XM_006718858.3:c.1790-11671T>C | XP_006718921.1:n.1790-11671T>C | |
| NM_001271162.2:c.8-11671T>C | NP_001258091.1:n.8-11671T>C | |
| NR_073141.3:n.1797-11671T>C | ||
| NR_073142.3:n.1796+22460T>C | ||
| NR_073143.3:n.1797-11671T>C |