Linked Data
dbSNP Id:
rs187440299
gnomAD v2:
X-31645522-T-A
gnomAD v3:
X-31627405-T-A
gnomAD v4:
X-31627405-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31627405T>A , CM000685.2:g.31627405T>A | GRCh38 |
| NC_000023.10:g.31645522T>A , CM000685.1:g.31645522T>A | GRCh37 |
| NC_000023.9:g.31555443T>A | NCBI36 |
| NG_012232.1:g.1717205A>T , LRG_199:g.1717205A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.3063+268A>T | ENSP00000350765.3:n.3063+268A>T | |
| ENST00000682238.1:c.837+268A>T | ENSP00000508124.1:n.837+268A>T | |
| ENST00000683450.1:n.1682+268A>T | ||
| ENST00000683851.1:n.2146A>T | ||
| ENST00000683957.1:n.1709+268A>T | ||
| ENST00000684130.1:c.837+268A>T | ENSP00000508037.1:n.837+268A>T | |
| ENST00000357033.9:c.8217+268A>T MANE Select | ENSP00000354923.3:n.8217+268A>T | |
| ENST00000619831.5:c.4185+268A>T | ENSP00000479270.2:n.4185+268A>T | |
| ENST00000620040.5:c.837+268A>T | ENSP00000478150.2:n.837+268A>T | |
| ENST00000680961.1:c.837+268A>T | ENSP00000506386.1:n.837+268A>T | |
| ENST00000681646.1:n.1878+268A>T | ||
| ENST00000357033.8:c.8217+268A>T | ENSP00000354923.3:n.8217+268A>T | |
| ENST00000358062.6:c.1305+268A>T | ENSP00000350765.2:n.1305+268A>T | |
| ENST00000359836.5:c.837+268A>T | ENSP00000352894.1:n.837+268A>T | |
| ENST00000378677.6:c.8205+268A>T | ENSP00000367948.2:n.8205+268A>T | |
| ENST00000378707.7:c.837+268A>T | ENSP00000367979.3:n.837+268A>T | |
| ENST00000474231.5:c.837+268A>T | ENSP00000417123.1:n.837+268A>T | |
| ENST00000541735.5:c.837+268A>T | ENSP00000444119.1:n.837+268A>T | |
| ENST00000619831.4:c.8202+268A>T | ENSP00000479270.1:n.8202+268A>T | |
| ENST00000620040.4:c.8214+268A>T | ENSP00000478150.1:n.8214+268A>T | |
| NM_000109.3:c.8193+268A>T | NP_000100.2:n.8193+268A>T | |
| NM_004006.2:c.8217+268A>T , LRG_199t1:c.8217+268A>T | NP_003997.1:n.8217+268A>T | |
| NM_004009.3:c.8205+268A>T | NP_004000.1:n.8205+268A>T | |
| NM_004010.3:c.7848+268A>T | NP_004001.1:n.7848+268A>T | |
| NM_004011.3:c.4194+268A>T | NP_004002.2:n.4194+268A>T | |
| NM_004012.3:c.4185+268A>T | NP_004003.1:n.4185+268A>T | |
| NM_004013.2:c.837+268A>T | NP_004004.1:n.837+268A>T | |
| NM_004020.3:c.837+268A>T | NP_004011.2:n.837+268A>T | |
| NM_004021.2:c.837+268A>T | NP_004012.1:n.837+268A>T | |
| NM_004022.2:c.837+268A>T | NP_004013.1:n.837+268A>T | |
| NM_004023.2:c.837+268A>T | NP_004014.1:n.837+268A>T | |
| XM_006724468.2:c.8217+268A>T | XP_006724531.1:n.8217+268A>T | |
| XM_006724469.2:c.8193+268A>T | XP_006724532.1:n.8193+268A>T | |
| XM_006724470.2:c.8217+268A>T | XP_006724533.1:n.8217+268A>T | |
| XM_006724471.2:c.8217+268A>T | XP_006724534.1:n.8217+268A>T | |
| XM_006724472.2:c.8088+268A>T | XP_006724535.1:n.8088+268A>T | |
| XM_006724473.2:c.8079+268A>T | XP_006724536.1:n.8079+268A>T | |
| XM_006724474.2:c.8217+268A>T | XP_006724537.1:n.8217+268A>T | |
| XM_006724475.2:c.8217+268A>T | XP_006724538.1:n.8217+268A>T | |
| XM_011545467.1:c.8094+268A>T | XP_011543769.1:n.8094+268A>T | |
| XM_011545468.1:c.8217+268A>T | XP_011543770.1:n.8217+268A>T | |
| XM_006724469.3:c.8193+268A>T | XP_006724532.1:n.8193+268A>T | |
| XM_006724470.3:c.8217+268A>T | XP_006724533.1:n.8217+268A>T | |
| XM_006724474.3:c.8217+268A>T | XP_006724537.1:n.8217+268A>T | |
| XM_011545468.2:c.8217+268A>T | XP_011543770.1:n.8217+268A>T | |
| XM_017029328.1:c.8217+268A>T | XP_016884817.1:n.8217+268A>T | |
| XM_017029331.1:c.2391+268A>T | XP_016884820.1:n.2391+268A>T | |
| NM_000109.4:c.8193+268A>T | NP_000100.3:n.8193+268A>T | |
| NM_004006.3:c.8217+268A>T MANE Select | NP_003997.2:n.8217+268A>T | |
| NM_004011.4:c.4194+268A>T | NP_004002.3:n.4194+268A>T | |
| NM_004012.4:c.4185+268A>T | NP_004003.2:n.4185+268A>T | |
| NM_004021.3:c.837+268A>T | NP_004012.2:n.837+268A>T | |
| NM_004023.3:c.837+268A>T | NP_004014.2:n.837+268A>T | |
| NM_004013.3:c.837+268A>T | NP_004004.2:n.837+268A>T | |
| NM_004020.4:c.837+268A>T | NP_004011.3:n.837+268A>T | |
| NM_004022.3:c.837+268A>T | NP_004013.2:n.837+268A>T |