Linked Data
dbSNP Id:
rs573513340
gnomAD v2:
2-101479018-C-T
gnomAD v3:
2-100862556-C-T
gnomAD v4:
2-100862556-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.100862556C>T , CM000664.2:g.100862556C>T | GRCh38 |
| NC_000002.11:g.101479018C>T , CM000664.1:g.101479018C>T | GRCh37 |
| NC_000002.10:g.100845450C>T | NCBI36 |
| NG_023259.1:g.47406C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335681.10:c.-23+42142C>T MANE Select | ENSP00000338283.5:n.-23+42142C>T | |
| ENST00000335681.9:c.-23+42142C>T | ENSP00000338283.5:n.-23+42142C>T | |
| ENST00000427413.5:c.173+41357C>T | ENSP00000397595.2:n.173+41357C>T | |
| NM_002518.3:c.-23+42142C>T | NP_002509.2:n.-23+42142C>T | |
| XM_005263953.1:c.173+41357C>T | XP_005264010.1:n.173+41357C>T | |
| XM_005263954.1:c.173+41357C>T | XP_005264011.1:n.173+41357C>T | |
| XM_005263957.1:c.173+41357C>T | XP_005264014.1:n.173+41357C>T | |
| XM_005263959.1:c.173+41357C>T | XP_005264016.1:n.173+41357C>T | |
| XM_005263960.1:c.173+41357C>T | XP_005264017.1:n.173+41357C>T | |
| XM_011511242.1:c.-23+42142C>T | XP_011509544.1:n.-23+42142C>T | |
| XM_011511243.1:c.173+41357C>T | XP_011509545.1:n.173+41357C>T | |
| XR_922928.1:n.175+41357C>T | ||
| XM_005263953.2:c.173+41357C>T | XP_005264010.1:n.173+41357C>T | |
| XM_005263959.2:c.173+41357C>T | XP_005264016.1:n.173+41357C>T | |
| XM_005263960.2:c.173+41357C>T | XP_005264017.1:n.173+41357C>T | |
| XM_011511242.2:c.-23+42142C>T | XP_011509544.1:n.-23+42142C>T | |
| XM_011511243.2:c.173+41357C>T | XP_011509545.1:n.173+41357C>T | |
| XM_017004214.1:c.173+41357C>T | XP_016859703.1:n.173+41357C>T | |
| XM_017004215.1:c.173+41357C>T | XP_016859704.1:n.173+41357C>T | |
| XM_017004216.1:c.173+41357C>T | XP_016859705.1:n.173+41357C>T | |
| XM_017004217.1:c.173+41357C>T | XP_016859706.1:n.173+41357C>T | |
| NM_002518.4:c.-23+42142C>T MANE Select | NP_002509.2:n.-23+42142C>T |